ClinVar Miner

List of variants reported as benign for autosomal recessive disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4584
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.*1264T>A rs9483585 0.99999
NM_173477.5(USH1G):c.*371= rs1288389465 0.99999
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423 0.99994
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) rs904783 0.99962
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99748
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_002241.5(KCNJ10):c.*2040C>G rs2486254 0.99734
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_138694.4(PKHD1):c.*374T>C rs2784201 0.99624
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=) rs2361293 0.99538
NM_004937.3(CTNS):c.*738T>G rs224562 0.99537
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=) rs2955379 0.99481
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_018972.4(GDAP1):c.*797A>G rs7007283 0.99395
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_001127649.3(PEX26):c.*2281T>C rs362209 0.99208
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_001367624.2(ZNF469):c.*788G>A rs3894713 0.98791
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_006996.3(SLC19A2):c.*60G>A rs2678166 0.98575
NM_000067.2(CA2):c.-181A>T rs11261477 0.98543
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831 0.98238
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348 0.98231
NM_000318.3(PEX2):c.*1194A>G rs4311633 0.98172
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=) rs669561 0.97986
NM_001366722.1(GRIP1):c.2464+15T>C rs7970076 0.97982
NM_014780.5(CUL7):c.2439A>G (p.Gln813=) rs9394939 0.97892
NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg) rs9381231 0.97891
NM_005529.7(HSPG2):c.1912A>G (p.Met638Val) rs1874792 0.97869
NM_000070.3(CAPN3):c.*134C>T rs3098423 0.97772
NM_001099287.2(NIPAL4):c.1116T>C (p.Val372=) rs4704870 0.97772
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) rs4894043 0.97302
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722 0.97162
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816 0.96819
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814 0.96074
NM_025074.7(FRAS1):c.7371+11T>C rs7664505 0.95846
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_005529.7(HSPG2):c.324C>T (p.Phe108=) rs2501260 0.95305
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_000318.3(PEX2):c.*2377A>G rs4388434 0.94963
NM_000318.3(PEX2):c.*727T>C rs4610720 0.94956
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_012210.4(TRIM32):c.*129C>T rs3019 0.93964
NM_025074.7(FRAS1):c.604-8G>A rs2867014 0.93589
NM_005529.7(HSPG2):c.2109C>T (p.Ala703=) rs1874793 0.93527
NM_005529.7(HSPG2):c.2294A>G (p.Asn765Ser) rs989994 0.93519
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_001278293.3(ARL6):c.*225G>C rs4857294 0.92035
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_005708.5(GPC6):c.*3833G>C rs7986904 0.90702
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=) rs10063424 0.90200
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_012188.5(FOXI1):c.*440G>A rs6555887 0.89035
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_032193.4(RNASEH2C):c.*1527A>C rs521678 0.88416
NM_001127649.3(PEX26):c.*2051A>G rs361946 0.88398
NM_001127649.3(PEX26):c.*987T>C rs361807 0.88380
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_138694.4(PKHD1):c.*2564A>G rs1414504 0.88144
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310 0.87769
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met) rs2291311 0.87338
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001077365.2(POMT1):c.*348C>T rs7857419 0.87122
NM_001145809.2(MYH14):c.3033+11T>C rs930086 0.86981
NM_022336.4(EDAR):c.*42G>T rs7607563 0.86887
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_001145809.2(MYH14):c.*216T>G rs627491 0.86114
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_018389.5(SLC35C1):c.*1158C>T rs4756027 0.84749
NM_001099287.2(NIPAL4):c.*1356T>C rs6556051 0.84570
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000286.3(PEX12):c.-428T>C rs321600 0.84193
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_005982.4(SIX1):c.*334C>G rs10144415 0.83338
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_000208.4(INSR):c.*104A>G rs1051690 0.83181
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_004937.3(CTNS):c.*2383dup rs397702352 0.82623
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_000163.5(GHR):c.-164A>G rs2940928 0.81907
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898 0.81697
NM_012188.5(FOXI1):c.*535A>G rs6555888 0.81574
NM_003839.4(TNFRSF11A):c.*2590A>C rs884205 0.81374
NM_003630.3(PEX3):c.*319A>T rs223234 0.81061
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_001367624.2(ZNF469):c.*1001A>G rs3848234 0.80892
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_018451.5(CENPJ):c.3216+7A>G rs9318917 0.80822
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_004100.5(EYA4):c.*1434A>G rs9483586 0.79868
NM_021252.5(RAB18):c.*3803_*3804insT rs3832657 0.79694
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514 0.79008
NM_018389.5(SLC35C1):c.*1312T>C rs7943306 0.79007
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_016239.4(MYO15A):c.10431T>C (p.Tyr3477=) rs854800 0.78890
NM_016239.4(MYO15A):c.*920G>A rs854802 0.78850
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001145809.2(MYH14):c.5678+12C>T rs3826772 0.78229
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_005529.7(HSPG2):c.7738-14T>C rs3767138 0.77496
NM_024685.4(BBS10):c.*1051C>T rs3087711 0.77456
NM_018136.5(ASPM):c.*81C>T rs12677 0.77214
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_174878.3(CLRN1):c.*315C>T rs1456138 0.76689
NM_174878.3(CLRN1):c.*372C>T rs4680058 0.76596
NM_006005.3(WFS1):c.*91C>T rs1046319 0.76546
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_016239.4(MYO15A):c.5826-12A>C rs854778 0.76256
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_005422.4(TECTA):c.1485A>G (p.Ala495=) rs536069 0.76077
NM_002180.3(IGHMBP2):c.*255T>C rs564244 0.75917
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_000163.5(GHR):c.*542_*543insA rs11369980 0.74904
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_000281.4(PCBD1):c.*36G>A rs9712 0.74730
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=) rs1651553 0.74436
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_022336.4(EDAR):c.*1129A>G rs13001699 0.74105
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_207361.6(FREM2):c.*5491G>A rs2226913 0.73809
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_207361.6(FREM2):c.*4465C>T rs2027770 0.73599
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_004560.4(ROR2):c.*16G>A rs2230578 0.73170
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_004999.4(MYO6):c.*4114T>A rs7766661 0.72931
NM_033064.5(ATCAY):c.*2586A>G rs8104659 0.72881
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000163.5(GHR):c.*1554G>A rs7442754 0.71972
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_001098484.3(SLC4A4):c.*2767A>G rs1043218 0.71793
NM_006005.3(WFS1):c.*47T>C rs1046317 0.71708
NM_004937.3(CTNS):c.*2306T>C rs161397 0.71652
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_006892.4(DNMT3B):c.*827A>G rs2424932 0.71093
NM_022336.4(EDAR):c.*1598T>C rs10865025 0.70934
NM_002230.4(JUP):c.*225T>C rs4627408 0.70932
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_138694.4(PKHD1):c.*3026A>G rs2784199 0.70489
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_001127671.2(LIFR):c.*362G>A rs1005017 0.70336
NM_001143985.1(BANF1):c.-192G>C rs1786171 0.70323
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520 0.69988
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435 0.69705
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210 0.69535
NM_017433.5(MYO3A):c.1105G>A (p.Val369Ile) rs3817420 0.69434
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_017433.5(MYO3A):c.1042A>G (p.Ile348Val) rs3824699 0.68769
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745 0.68524
NM_017755.6(NSUN2):c.1602-11G>T rs2303707 0.68523
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_001366722.1(GRIP1):c.724+10G>A rs12316942 0.67684
NM_000208.4(INSR):c.*2779G>A rs3745551 0.67433
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752 0.67410
NM_004937.3(CTNS):c.*1440A>G rs161398 0.67203
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_002230.4(JUP):c.-88A>G rs4796702 0.65910
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_015294.6(TRIM37):c.-340T>G rs7503190 0.65862
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154 0.65254
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001164688.2(RD3):c.-201_-200insC rs11463656 0.65004
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_000320.3(QDPR):c.*510C>T rs1031327 0.64808
NM_000320.3(QDPR):c.*468A>C rs699460 0.64794
NM_000320.3(QDPR):c.*220T>C rs1049581 0.64638
NM_000320.3(QDPR):c.*221G>A rs1049582 0.64635
NM_025074.7(FRAS1):c.*2489T>C rs11098227 0.64399
NM_000163.5(GHR):c.558A>G (p.Gly186=) rs6179 0.64137
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703 0.64073
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=) rs3745509 0.63924
NM_025074.7(FRAS1):c.*2154C>T rs3811747 0.63908
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_147127.5(EVC2):c.*384T>A rs2287576 0.63456
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_006005.3(WFS1):c.461-15C>T rs9998519 0.62200
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_025074.7(FRAS1):c.*2700G>A rs11098228 0.61498
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000320.3(QDPR):c.*690A>G rs1031326 0.61178
NM_004407.4(DMP1):c.*607A>G rs2627725 0.61047
NM_003673.4(TCAP):c.453A>C (p.Ala151=) rs1053651 0.61044
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_057174.2(PEX16):c.*434G>A rs2280329 0.60761
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_014053.4(FLVCR1):c.*1151A>G rs6682947 0.60512
NM_014053.4(FLVCR1):c.*339T>G rs12074192 0.60505
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser) rs1999240 0.60118
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_014053.4(FLVCR1):c.*1609A>G rs12405742 0.59824
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) rs6058891 0.59749
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) rs2424922 0.59732
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_203486.3(DLL3):c.653T>C (p.Leu218Pro) rs1110627 0.59676
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_000243.3(MEFV):c.*474C>G rs11466051 0.59239
NM_000243.3(MEFV):c.*1056G>T rs450021 0.59227
NM_000243.3(MEFV):c.*475A>G rs11466052 0.59188
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_000123.4(ERCC5):c.*84G>A rs873601 0.59033
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_006892.4(DNMT3B):c.1906-5T>C rs2424928 0.58051
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_001692.4(ATP6V1B1):c.-89A>G rs11685700 0.57743
NM_006005.3(WFS1):c.*683C>T rs3200 0.57543
NM_182961.4(SYNE1):c.11580+15C>T rs6908392 0.57402
NM_006208.3(ENPP1):c.*1972G>C rs1931006 0.57374
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_001145809.2(MYH14):c.657G>A (p.Ala219=) rs4801822 0.56915
NM_001256317.3(TMPRSS3):c.447-13A>G rs8130564 0.56900
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_000557.5(GDF5):c.-48= rs143384 0.56056
NM_153717.3(EVC):c.*931T>C rs6840435 0.56030
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=) rs854772 0.55976
NM_138691.3(TMC1):c.-219A>G rs7026304 0.55869
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_006892.4(DNMT3B):c.1760-5C>G rs1997797 0.55509
NM_022098.4(XPNPEP3):c.*2629G>A rs2899341 0.55160
NM_006005.3(WFS1):c.*149G>A rs1046320 0.54693
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_001042472.2(ABHD12):c.-220G>A rs3827014 0.54397
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_006005.3(WFS1):c.*604G>C rs9457 0.53926
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) rs13119545 0.53595
NM_004525.3(LRP2):c.3550+14C>T rs2075254 0.53578
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=) rs3745504 0.53291
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_002473.6(MYH9):c.1554+7A>G rs3752462 0.53193
NM_138691.3(TMC1):c.-468G>A rs7022441 0.53167
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_020247.4(COQ8A):c.*815C>T rs10495274 0.53093
NM_000557.5(GDF5):c.-275= rs143383 0.53070
NM_005529.7(HSPG2):c.474G>T (p.Gly158=) rs2254358 0.52823
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_022336.4(EDAR):c.*2426C>T rs1478517 0.52218
NM_001127649.3(PEX26):c.*1265T>A rs456551 0.52154
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_001127649.3(PEX26):c.*167G>A rs464385 0.52045
NM_016239.4(MYO15A):c.4954C>T (p.Leu1652=) rs2280777 0.52028
NM_004999.4(MYO6):c.*3835C>T rs7742137 0.51984
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) rs931606 0.51866
NM_138691.3(TMC1):c.45C>T (p.Asp15=) rs2589615 0.51851
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644 0.51720
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn) rs3758449 0.51636
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241 0.51337
NM_025074.7(FRAS1):c.9116-11T>C rs7677541 0.51261
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.51057
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_000318.3(PEX2):c.*2663T>A rs28435921 0.50526
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) rs831042 0.50520
NM_025074.7(FRAS1):c.9116-5C>G rs7695038 0.50468
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) rs4859905 0.50277
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_001366722.1(GRIP1):c.1838+13G>T rs7397862 0.49975
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_182961.4(SYNE1):c.9147-13G>A rs214955 0.49738
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_000782.5(CYP24A1):c.*1256_*1257insAT rs10623012 0.49683
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_003896.3(ST3GAL5):c.-141T>C rs28364794 0.49269
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=) rs2839501 0.49190
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_182961.4(SYNE1):c.12795-12A>G rs9478314 0.48867
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_001195794.1(CLRN1):c.-71A>G rs3796240 0.48434
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_017433.5(MYO3A):c.1170+7C>T rs3817419 0.47630
NM_017433.5(MYO3A):c.956G>A (p.Arg319His) rs3824700 0.47622
NM_017433.5(MYO3A):c.1104C>T (p.Tyr368=) rs35379457 0.47540
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201 0.47513
NM_017433.5(MYO3A):c.1053+11C>T rs3824698 0.47508
NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile) rs1185246 0.47503
NM_017433.5(MYO3A):c.1053+12A>G rs3824697 0.47492
NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly) rs6860507 0.47353
NM_001099287.2(NIPAL4):c.*910A>T rs3822692 0.47331
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_207361.6(FREM2):c.*1428A>G rs9548522 0.47270
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_001366722.1(GRIP1):c.*616T>C rs1168308 0.47053
NM_006208.3(ENPP1):c.*3724C>T rs2327154 0.46998
NM_207361.6(FREM2):c.*5562C>G rs1945507 0.46889
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_001145809.2(MYH14):c.2355-14C>T rs12981413 0.46235
NM_207361.6(FREM2):c.*5733C>T rs1945505 0.46197
NM_139319.3(SLC17A8):c.*39A>C rs11568537 0.45975
NM_001080476.3(GRXCR1):c.*55G>A rs4861050 0.45974
NM_002241.5(KCNJ10):c.*2062T>G rs1053074 0.45911
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014053.4(FLVCR1):c.-86C>T rs2201603 0.45780
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_198428.3(BBS9):c.*110C>T rs1050721 0.45573
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_152618.3(BBS12):c.*811C>G rs309386 0.45540
NM_016239.4(MYO15A):c.-219-14T>C rs854817 0.45512
NM_016239.4(MYO15A):c.-76A>C rs854818 0.45498
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_153676.4(USH1C):c.*211A>G rs1055581 0.45185
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_014053.4(FLVCR1):c.*2813G>A rs1284854 0.45117
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_002857.4(PEX19):c.*2156C>G rs10594 0.44938
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_001042472.3(ABHD12):c.*148C>T rs1046073 0.44458
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_001042472.3(ABHD12):c.*297C>G rs11100 0.44435
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.44353
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006208.3(ENPP1):c.*1157C>T rs7754859 0.44164
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_001351132.2(PEX5):c.*755C>G rs1057225 0.44145
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_153676.4(USH1C):c.*46T>C rs1055574 0.44023
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_153676.4(USH1C):c.*186C>T rs1055577 0.43773
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_006846.4(SPINK5):c.*208C>G rs3088193 0.43751
NM_006846.4(SPINK5):c.*361_*363dup rs397704765 0.43679
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_021252.5(RAB18):c.*3453G>A rs11015861 0.43562
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001379180.1(ESRRB):c.*2906T>C rs3829784 0.43496
NM_000163.5(GHR):c.*300G>A rs2910875 0.43476
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_021628.3(ALOXE3):c.*356A>C rs3809882 0.43006
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_006892.4(DNMT3B):c.1252+13T>G rs910085 0.42898
NM_014053.4(FLVCR1):c.*2578G>A rs1284856 0.42748
NM_014053.4(FLVCR1):c.*2709T>C rs1284855 0.42731
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) rs2239795 0.42670
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180 0.42616
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_000329.3(RPE65):c.*915C>G rs3118416 0.42177
NM_000329.3(RPE65):c.*611G>A rs2182315 0.42147
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) rs4975070 0.42060
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) rs4975139 0.42041
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_001139.3(ALOX12B):c.650+7C>G rs2304908 0.42027
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41865
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_006642.5(SDCCAG8):c.-47T>A rs3904682 0.41725
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
NM_014028.4(OSTM1):c.*331A>G rs9320250 0.41485
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) rs2955366 0.41355
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_001139.3(ALOX12B):c.-155T>C rs2278635 0.41263
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_014053.4(FLVCR1):c.*2419G>A rs10864027 0.41090
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642 0.40886
NM_198428.3(BBS9):c.*103T>C rs1050719 0.40841
NM_005708.5(GPC6):c.-623G>A rs319522 0.40757
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_178170.3(NEK8):c.*388C>T rs1142899 0.40723
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_017433.5(MYO3A):c.3850A>T (p.Thr1284Ser) rs3740231 0.39847
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) rs12199580 0.39557
NM_004999.4(MYO6):c.*2027T>C rs6914716 0.39546
NM_021628.3(ALOXE3):c.2124C>T (p.Ser708=) rs3809881 0.39411
NM_033064.5(ATCAY):c.*823C>T rs10424392 0.39386
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292 0.39041
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_001143985.1(BANF1):c.-221T>G rs14157 0.38941
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_014053.4(FLVCR1):c.*1826C>T rs12567976 0.38865
NM_014053.4(FLVCR1):c.*1793C>T rs12567975 0.38742
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38704
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) rs7660664 0.38360
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=) rs378811 0.38312
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_033064.5(ATCAY):c.*3181G>A rs10412199 0.37873
NM_032193.4(RNASEH2C):c.*1917T>C rs535111 0.37725
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_000286.3(PEX12):c.*517A>G rs1046321 0.37640
NM_000123.3(ERCC5):c.-242T>C rs2296147 0.37387
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_001099287.1(NIPAL4):c.-10A>G rs1105282 0.37314
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
NM_001042472.3(ABHD12):c.*83G>A rs2424708 0.37241
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_000082.4(ERCC8):c.*105T>C rs3117 0.36900
NM_138387.4(G6PC3):c.-129C>T rs228758 0.36841
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.36610
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_014053.4(FLVCR1):c.*788C>T rs6670064 0.36556
NM_014053.4(FLVCR1):c.*626T>A rs11582817 0.36511
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_000286.3(PEX12):c.*836G>C rs10068 0.36472
NM_017791.3(FLVCR2):c.-96T>C rs11845734 0.36446
NM_173477.5(USH1G):c.*1900G>C rs1568448 0.36197
NM_015404.4(WHRN):c.-510G>A rs10759714 0.36192
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_001256317.3(TMPRSS3):c.*206A>G rs225309 0.35946
NM_004100.5(EYA4):c.*23C>T rs3734279 0.35809
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029 0.35796
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_207361.6(FREM2):c.*342G>A rs9603463 0.35702
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=) rs2163009 0.35615
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) rs1560221 0.35601
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250 0.35546
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=) rs2366751 0.35531
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_015404.4(WHRN):c.-391C>A rs4527950 0.35348
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_001267550.2(TTN):c.97795+6G>T rs3731750 0.35139
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_001146079.2(CLDN14):c.-264G>C rs188733 0.34950
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_016239.4(MYO15A):c.8322C>T (p.Ser2774=) rs712272 0.34416
NM_016239.4(MYO15A):c.8045A>T (p.Tyr2682Phe) rs712270 0.34278
NM_016239.4(MYO15A):c.8460-15C>T rs861278 0.34259
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_015294.6(TRIM37):c.*634A>T rs28475409 0.34158
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.34123
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_001146079.2(CLDN14):c.-290A>G rs219742 0.34026
NM_000162.5(GCK):c.*759del rs55714218 0.33944
NM_018451.5(CENPJ):c.*683dup rs397718122 0.33944
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_004937.3(CTNS):c.*2569C>T rs7093 0.33888
NM_004999.4(MYO6):c.*3940T>C rs11964034 0.33693
NM_014321.4(ORC6):c.-20T>C rs33994299 0.33690
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929 0.33689
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=) rs2562838 0.33531
NM_004999.4(MYO6):c.*350T>C rs699186 0.33478
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=) rs2747662 0.33426
NM_024649.5(BBS1):c.*955G>A rs1791686 0.33323
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_001145809.2(MYH14):c.*122A>C rs12978083 0.33223
NM_014028.4(OSTM1):c.*1883T>C rs7662 0.33096
NM_015404.4(WHRN):c.-91C>T rs2297814 0.33038
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_014028.4(OSTM1):c.*2301A>G rs9386700 0.32980
NM_002473.6(MYH9):c.*596G>A rs136200 0.32779
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003896.3(ST3GAL5):c.-140C>A rs28364795 0.32699
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) rs11098194 0.32564
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) rs6715406 0.32532
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) rs6851427 0.32517
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000277.3(PAH):c.*187G>A rs1801153 0.32335
NM_001145809.2(MYH14):c.1114+13C>T rs11666328 0.32285
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_182548.4(LHFPL5):c.*512A>T rs149225394 0.32164
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) rs12504081 0.31848
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) rs3749488 0.31772
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=) rs3740232 0.31670
NM_002485.5(NBN):c.*1209A>C rs1063054 0.31611
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_002485.5(NBN):c.*1754T>C rs9995 0.31588
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_176824.3(BBS7):c.-133C>G rs2271176 0.31261
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_001267550.2(TTN):c.23099-3T>C rs2562830 0.31174
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_002485.5(NBN):c.*541G>C rs2735383 0.31125
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
NM_025074.7(FRAS1):c.5366+13T>G rs2170899 0.31001
NM_032193.4(RNASEH2C):c.*2036C>T rs3372 0.30708
NM_001127671.2(LIFR):c.*1470T>G rs13156520 0.30679
NM_001127671.2(LIFR):c.*5670A>G rs3822425 0.30662
NM_001127671.2(LIFR):c.*6190C>T rs1046224 0.30641
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val) rs1377016 0.30620
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_001127671.2(LIFR):c.*3834C>G rs34130318 0.30347
NM_024596.5(MCPH1):c.*181C>G rs2433149 0.30338
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.*273G>A rs1063053 0.30308
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.30274
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_000782.4(CYP24A1):c.*1327G>A rs4811494 0.30270
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_001013693.3(LDLRAD2):c.*475G>C rs1049644 0.29929
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836 0.29823
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839 0.29759
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) rs8107127 0.29570
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_176824.3(BBS7):c.*419T>A rs3762840 0.29292
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_012188.5(FOXI1):c.279G>A (p.Arg93=) rs2277944 0.29024
NM_004836.6(EIF2AK3):c.*1007C>G rs33957402 0.29006
NM_207361.6(FREM2):c.*5899C>T rs1945504 0.28925
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_000019.3(ACAT1):c.*599A>C rs2280332 0.28837
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) rs12197079 0.28772
NM_018699.4(PRDM5):c.681A>G (p.Leu227=) rs343192 0.28756
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_012210.4(TRIM32):c.*1206T>C rs2281627 0.28741
NM_006208.3(ENPP1):c.*1091A>C rs7754586 0.28727
NM_000782.5(CYP24A1):c.*140T>C rs4809957 0.28683
NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=) rs2296239 0.28667
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_005422.4(TECTA):c.4098G>A (p.Thr1366=) rs12275038 0.28426
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_004407.4(DMP1):c.1230G>A (p.Glu410=) rs2615497 0.28028
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_203486.3(DLL3):c.1029C>T (p.Pro343=) rs2304214 0.27957
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_000208.4(INSR):c.*1494G>A rs3745550 0.27864
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_004407.4(DMP1):c.*35G>A rs2627724 0.27831
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=) rs3810817 0.27719
NM_002617.4(PEX10):c.*173G>A rs1129171 0.27656
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) rs2273917 0.27596
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_020631.6(PLEKHG5):c.*290T>C rs14708 0.27269
NM_000782.5(CYP24A1):c.*715C>G rs6022987 0.27231
NM_001366722.1(GRIP1):c.503-15C>A rs11838180 0.27190
NM_012210.4(TRIM32):c.-133G>C rs12342207 0.27173
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_001099287.2(NIPAL4):c.*782T>C rs3734029 0.27002
NM_176824.3(BBS7):c.*690T>C rs3217753 0.26976
NM_207361.6(FREM2):c.*5542T>A rs7327529 0.26970
NM_018972.4(GDAP1):c.*2214A>G rs10504580 0.26909
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26909
NM_182961.4(SYNE1):c.21656+13T>C rs9383976 0.26855
NM_207361.6(FREM2):c.*4770C>T rs6563648 0.26840
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_207361.6(FREM2):c.*3481G>A rs2184141 0.26619
NM_207361.6(FREM2):c.*3192T>C rs7337135 0.26600
NM_004415.4(DSP):c.*197C>T rs12250 0.26572
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_017875.4(SLC25A38):c.*310A>T rs12991 0.26507
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_024596.5(MCPH1):c.2215-15C>G rs11137040 0.26204
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_005422.4(TECTA):c.4105+13C>T rs7130952 0.26144
NM_207361.6(FREM2):c.*2926G>A rs1945508 0.26131
NM_207361.6(FREM2):c.*4560G>A rs2225623 0.26118
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_153717.3(EVC):c.*2268G>A rs4261923 0.25768
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) rs219779 0.25678
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_018319.4(TDP1):c.-230-14C>A rs28365055 0.25524
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_002473.6(MYH9):c.*261G>C rs11089787 0.25506
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663 0.25304
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_025074.7(FRAS1):c.*282A>T rs3749485 0.24962
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_014028.4(OSTM1):c.*1407A>G rs12567 0.24864
NM_014028.4(OSTM1):c.*1038A>G rs1064346 0.24805
NM_001374623.1(PNPLA1):c.504+11C>T rs2239796 0.24754
NM_004086.3(COCH):c.*27A>T rs13122 0.24742
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=) rs2228347 0.24480
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_004100.5(EYA4):c.*2108A>G rs17053541 0.24433
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164 0.24213
NM_004937.3(CTNS):c.*737T>A rs222754 0.24184
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_001367624.2(ZNF469):c.*8G>A rs45504291 0.24166
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) rs2584 0.24125
NM_006996.3(SLC19A2):c.*967A>G rs16862199 0.24080
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_020661.4(AICDA):c.*89A>C rs11046349 0.23977
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_002473.6(MYH9):c.*800T>C rs7078 0.23633
NM_024753.5(TTC21B):c.*1105G>T rs6756388 0.23631
NM_182961.4(SYNE1):c.*182G>A rs12681 0.23624
NM_033071.4(SYNE1):c.*750G>T rs2813558 0.23608
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787 0.23390
NM_006118.4(HAX1):c.-58T>G rs11265425 0.23384
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23322
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_001379180.1(ESRRB):c.*2504T>C rs3813545 0.23239
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=) rs41327848 0.23030
NM_002180.3(IGHMBP2):c.*681T>C rs9095 0.22873
NM_004560.4(ROR2):c.98-15G>C rs7863557 0.22863
NM_001098484.3(SLC4A4):c.*938G>C rs1062679 0.22831
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_000208.4(INSR):c.*784C>G rs1051651 0.22772
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) rs34840208 0.22689
NM_000208.4(INSR):c.*4474C>T rs1052371 0.22677
NM_000208.3(INSR):c.*4802C>T rs12150997 0.22638
NM_020631.6(PLEKHG5):c.-88+5G>A rs3007429 0.22575
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_004999.4(MYO6):c.*12C>T rs12606 0.22544
NM_014780.5(CUL7):c.339C>T (p.Asp113=) rs4711738 0.22523
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_020632.3(ATP6V0A4):c.*239G>A rs8846 0.22481
NM_014053.4(FLVCR1):c.*844T>C rs12565125 0.22460
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_002180.3(IGHMBP2):c.*427C>T rs3750980 0.22234
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_002473.6(MYH9):c.*238G>T rs11703176 0.22062
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) rs1796993 0.21988
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=) rs17003235 0.21846
NM_000211.4(ITGB2):c.-111T>C rs2070947 0.21817
NM_014053.4(FLVCR1):c.*931C>T rs12567713 0.21766
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_014053.4(FLVCR1):c.*1106C>T rs12567728 0.21651
NM_014053.4(FLVCR1):c.*673G>A rs41301027 0.21642
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_014053.4(FLVCR1):c.*2968G>A rs10902 0.21622
NM_000318.3(PEX2):c.-164C>A rs12718 0.21609
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001267550.2(TTN):c.57315T>C (p.His19105=) rs35833641 0.21406
NM_004937.3(CTNS):c.*405G>A rs760273 0.21386
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_176824.3(BBS7):c.*1286G>A rs1507996 0.21106
NM_014053.4(FLVCR1):c.*2908G>A rs1284853 0.21097
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21091
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_152618.3(BBS12):c.-124G>A rs309358 0.21071
NM_014053.4(FLVCR1):c.*3313G>T rs15903 0.21069
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_144596.4(TTC8):c.*238G>A rs1048190 0.20574
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099 0.20573
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_001145809.2(MYH14):c.3680+9C>T rs76579307 0.20534
NM_000286.3(PEX12):c.*166C>A rs1037590 0.20532
NM_004100.5(EYA4):c.*2184A>T rs17053542 0.20492
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_004100.5(EYA4):c.*726C>A rs55805978 0.20466
NM_152618.3(BBS12):c.*248G>A rs4833843 0.20459
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) rs219780 0.20318
NM_005708.5(GPC6):c.*3693A>G rs7988636 0.20296
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_018319.4(TDP1):c.*77C>T rs9488 0.20063
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=) rs12499000 0.19996
NM_182961.4(SYNE1):c.*103C>A rs2250122 0.19913
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_003790.3(TNFRSF25):c.-16C>T rs3007417 0.19870
NM_021252.5(RAB18):c.*3696T>A rs10829269 0.19806
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_207361.6(FREM2):c.7984-10G>A rs9532295 0.19705
NM_000211.5(ITGB2):c.*122G>A rs684 0.19694
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_004937.3(CTNS):c.*555T>C rs1048646 0.19518
NM_004937.3(CTNS):c.*572A>G rs3826493 0.19518
NM_004937.3(CTNS):c.*627T>C rs1048647 0.19492
NM_004937.3(CTNS):c.*631T>C rs1048648 0.19488
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.*715C>T rs1048649 0.19427
NM_020631.5(PLEKHG5):c.*990C>T rs3007418 0.19422
NM_004937.3(CTNS):c.*421T>C rs760274 0.19404
NM_004937.3(CTNS):c.*410A>G rs3826496 0.19387
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_002485.5(NBN):c.*1977T>C rs14448 0.19329
NM_004999.4(MYO6):c.*3447A>C rs1341567 0.19296
NM_018389.5(SLC35C1):c.*1315C>T rs55758172 0.19265
NM_018389.5(SLC35C1):c.*1074C>T rs4756026 0.19261
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_016239.4(MYO15A):c.9518-11T>C rs62073604 0.19159
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=) rs8077577 0.19129
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_182961.4(SYNE1):c.20530-14G>A rs2296254 0.19082
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_004937.3(CTNS):c.*1025A>G rs1048674 0.19022
NM_004937.3(CTNS):c.*1024C>T rs1048673 0.19015
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537 0.18910
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_004937.3(CTNS):c.*1116C>T rs1048682 0.18891
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787 0.18850
NM_014425.5(INVS):c.274-15_274-14del rs61147858 0.18785
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_004937.3(CTNS):c.*1152A>G rs2235104 0.18705
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_025074.7(FRAS1):c.*33T>A rs72659058 0.18560
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_005708.5(GPC6):c.*1665C>A rs7334430 0.18473
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_003839.4(TNFRSF11A):c.*1624G>C rs12455323 0.18364
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_001127671.2(LIFR):c.*5169T>A rs3822426 0.18293
NM_018972.4(GDAP1):c.*1878G>T rs16938896 0.18293
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397 0.18215
NM_018972.4(GDAP1):c.*357A>G rs1135715 0.18199
NM_018972.4(GDAP1):c.*830C>G rs4737414 0.18198
NM_000329.3(RPE65):c.*531A>G rs3118418 0.18178
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_025074.7(FRAS1):c.9116-6C>T rs76630865 0.18150
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_001098484.3(SLC4A4):c.*77A>C rs1062677 0.18093
NM_001127453.2(GSDME):c.405-15G>A rs754553 0.18061
NM_139319.3(SLC17A8):c.-218T>C rs10860582 0.18033
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=) rs3749487 0.18004
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_016239.4(MYO15A):c.*612C>G rs10048161 0.17931
NM_000441.2(SLC26A4):c.*868G>A rs2712218 0.17928
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_005219.5(DIAPH1):c.*1041G>A rs6892185 0.17917
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) rs3110234 0.17829
NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=) rs78575519 0.17765
NM_000782.5(CYP24A1):c.*50C>T rs2762934 0.17757
NM_014425.5(INVS):c.-110T>G rs7024375 0.17693
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918 0.17658
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_001256317.3(TMPRSS3):c.*2G>A rs13047838 0.17560
NM_021252.5(RAB18):c.*3484T>C rs11598268 0.17485
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_021252.5(RAB18):c.*3476A>G rs11597728 0.17476
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_005708.5(GPC6):c.1234G>A (p.Val412Met) rs1535692 0.17412
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_001098484.3(SLC4A4):c.*175del rs138389345 0.17341
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) rs754555 0.17320
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) rs2269530 0.17309
NM_001042545.2(LTBP4):c.*20G>A rs1051481 0.17303
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_000543.5(SMPD1):c.*45G>A rs8164 0.17086
NM_018389.5(SLC35C1):c.-303G>C rs12289963 0.17005
NM_006208.3(ENPP1):c.*1539A>G rs9493121 0.16942
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_014053.4(FLVCR1):c.*1600G>A rs55793082 0.16870
NM_024753.5(TTC21B):c.*517G>A rs77199262 0.16849
NM_002473.6(MYH9):c.*732C>T rs12107 0.16843
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_016239.4(MYO15A):c.5212-14C>T rs2072652 0.16745
NM_016239.4(MYO15A):c.6052G>A (p.Gly2018Arg) rs2272571 0.16711
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_024753.5(TTC21B):c.*531A>G rs56115495 0.16645
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500 0.16545
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) rs3809797 0.16512
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) rs11886219 0.16510
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) rs3829748 0.16457
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_006208.3(ENPP1):c.*3837T>C rs55725924 0.16400
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_006208.3(ENPP1):c.*3511T>C rs9483350 0.16375
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) rs17149912 0.16349
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) rs35112591 0.16327
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_033064.5(ATCAY):c.1074-14T>C rs10420591 0.16262
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16202
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_003383.5(VLDLR):c.*551T>C rs8210 0.16040
NM_198428.3(BBS9):c.-407C>G rs3750123 0.15979
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_003630.3(PEX3):c.*546A>G rs10809 0.15859
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_025074.7(FRAS1):c.-23C>T rs34237418 0.15546
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) rs2857265 0.15539
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) rs3731748 0.15537
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) rs2229268 0.15380
NM_016239.4(MYO15A):c.5649+14G>A rs2072653 0.15358
NM_004407.4(DMP1):c.1218C>T (p.Ser406=) rs2615498 0.15334
NM_005708.5(GPC6):c.-320C>A rs17645969 0.15297
NM_004100.5(EYA4):c.*1867C>T rs17053540 0.15248
NM_198428.3(BBS9):c.-12+7T>C rs1468797 0.15207
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_001017420.3(ESCO2):c.*363C>A rs72609983 0.15160
NM_001017420.3(ESCO2):c.*425G>A rs72609984 0.15151
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_002473.6(MYH9):c.*1314C>T rs2481 0.15103
NM_001017420.3(ESCO2):c.*471T>A rs201762904 0.15082
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_001145809.2(MYH14):c.91C>A (p.Pro31Thr) rs590722 0.14959
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454 0.14792
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) rs3736360 0.14722
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_015910.7(WDPCP):c.1916-6C>T rs2421862 0.14640
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_001145809.2(MYH14):c.2827-9A>C rs3745503 0.14515
NM_021628.3(ALOXE3):c.-300C>G rs3027229 0.14510
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_025074.7(FRAS1):c.10153T>G (p.Tyr3385Asp) rs35933858 0.14412
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_025074.7(FRAS1):c.9252G>T (p.Arg3084=) rs11933630 0.14408
NM_025074.7(FRAS1):c.10389+11C>T rs74632598 0.14352
NM_002180.3(IGHMBP2):c.*665C>T rs9769 0.14339
NM_025074.7(FRAS1):c.10683A>T (p.Glu3561Asp) rs931605 0.14336
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001378454.1(ALMS1):c.*267T>A rs62149804 0.14287
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900 0.14221
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_170784.3(MKKS):c.*435G>A rs6108549 0.14136
NM_170784.3(MKKS):c.*392T>C rs2294901 0.14121
NM_022336.4(EDAR):c.*935C>T rs3749096 0.14095
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_207361.6(FREM2):c.5518C>T (p.Arg1840Trp) rs9603422 0.14074
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502 0.14024
NM_001083961.2(WDR62):c.1643-10C>T rs4806263 0.14010
NM_138691.3(TMC1):c.-329C>A rs7856724 0.13978
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_002855.5(NECTIN1):c.*3301T>C rs11217380 0.13736
NM_130384.3(ATRIP):c.*714T>C rs3135941 0.13734
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_025074.7(FRAS1):c.*1814G>A rs17003321 0.13590
NM_001374623.1(PNPLA1):c.1595+511A>C rs12214296 0.13494
NM_005529.7(HSPG2):c.10831-4G>A rs17459139 0.13467
NM_018451.5(CENPJ):c.*404C>T rs77868928 0.13457
NM_005529.7(HSPG2):c.10617C>T (p.Val3539=) rs2229492 0.13438
NM_003193.5(TBCE):c.560+5G>A rs12757197 0.13398
NM_004937.2(CTNS):c.-313G>A rs17707869 0.13396
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532 0.13368
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_004937.3(CTNS):c.*2546G>C rs1128109 0.13235
NM_005219.5(DIAPH1):c.*933T>A rs55798800 0.13233
NM_004937.3(CTNS):c.*2550G>A rs1128098 0.13232
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_004999.4(MYO6):c.*459A>G rs1045758 0.13207
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_003193.5(TBCE):c.*142T>A rs7537 0.13128
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_153717.3(EVC):c.*210C>A rs16837692 0.13049
NM_153717.3(EVC):c.*1218C>T rs12501119 0.13032
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_017433.5(MYO3A):c.3112-4T>C rs16926628 0.12937
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala) rs34670941 0.12788
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.12760
NM_025074.7(FRAS1):c.*1301G>A rs3210826 0.12730
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_001127453.2(GSDME):c.*481G>C rs12979 0.12626
NM_153717.3(EVC):c.*3165T>C rs3755847 0.12593
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_018451.5(CENPJ):c.*639T>C rs61947515 0.12574
NM_006208.3(ENPP1):c.*1350G>A rs9493120 0.12565
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655 0.12535
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12521
NM_000208.4(INSR):c.1862-4A>G rs2245649 0.12510
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963 0.12510
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_006208.3(ENPP1):c.*563G>A rs1044586 0.12391
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_006208.3(ENPP1):c.*1101G>T rs11154647 0.12369
NM_001256317.3(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181 0.12359
NM_006208.3(ENPP1):c.*1137T>C rs11154648 0.12356
NM_006208.3(ENPP1):c.*777C>T rs34836463 0.12355
NM_006208.3(ENPP1):c.*457T>A rs1044582 0.12353
NM_138694.4(PKHD1):c.*2208A>G rs2784200 0.12333
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_006208.3(ENPP1):c.*699T>A rs34142005 0.12323
NM_006208.3(ENPP1):c.*112G>A rs1044548 0.12306
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246 0.12235
NM_001194998.2(CEP152):c.-24A>T rs62621137 0.12224
NM_001194998.2(CEP152):c.-25C>A rs185424999 0.12222
NM_001194998.2(CEP152):c.-26A>T rs35871801 0.12222
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_153717.3(EVC):c.*2680G>A rs3733187 0.12188
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_003839.4(TNFRSF11A):c.*2490A>G rs78459945 0.12123
NM_182548.4(LHFPL5):c.*483T>C rs2766531 0.12099
NM_153717.3(EVC):c.*2871C>T rs3733189 0.12083
NM_003839.4(TNFRSF11A):c.*2173A>T rs78326403 0.11998
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001194998.2(CEP152):c.-94A>G rs2304546 0.11928
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_002635.4(SLC25A3):c.*211T>A rs76488843 0.11857
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=) rs345528 0.11760
NM_018389.5(SLC35C1):c.-632G>A rs77254044 0.11737
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498 0.11527
NM_001692.4(ATP6V1B1):c.-34C>T rs79652147 0.11515
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_018451.5(CENPJ):c.*398A>G rs11620289 0.11436
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_017755.6(NSUN2):c.*99G>A rs3776448 0.11157
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_020661.4(AICDA):c.*309T>C rs12307097 0.11052
NM_024753.5(TTC21B):c.*878A>G rs62177807 0.11039
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_000317.3(PTS):c.163+14T>C rs3819331 0.10984
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=) rs61472141 0.10977
NM_006208.3(ENPP1):c.*163C>T rs1044558 0.10959
NM_006208.3(ENPP1):c.*389G>A rs553 0.10942
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=) rs2155369 0.10906
NM_024685.4(BBS10):c.*769G>C rs73383520 0.10902
NM_000320.3(QDPR):c.*403A>G rs1049600 0.10881
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_000320.3(QDPR):c.*408C>T rs1049601 0.10880
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_001127671.2(LIFR):c.*586A>T rs2561819 0.10855
NM_001127649.3(PEX26):c.*1590G>A rs5992169 0.10823
NM_001127649.3(PEX26):c.*1669C>G rs112015789 0.10796
NM_001127649.3(PEX26):c.*917C>T rs9605518 0.10773
NM_198428.3(BBS9):c.-259G>A rs73095326 0.10731
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_207361.6(FREM2):c.6458C>G (p.Thr2153Ser) rs9548506 0.10599
NM_207361.6(FREM2):c.6459T>C (p.Thr2153=) rs9548507 0.10596
NM_000208.4(INSR):c.*2854G>T rs1864193 0.10584
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054 0.10566
NM_003383.5(VLDLR):c.*180G>A rs3421 0.10555
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_005708.5(GPC6):c.*4656T>A rs9561553 0.10464
NM_000208.4(INSR):c.*4422G>T rs12642 0.10462
NM_000208.4(INSR):c.*2010G>A rs55972112 0.10448
NM_005708.5(GPC6):c.*2031A>C rs45618731 0.10401
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_005529.7(HSPG2):c.10895G>A (p.Arg3632Gln) rs2229493 0.10303
NM_005529.7(HSPG2):c.11082C>T (p.Pro3694=) rs2229486 0.10296
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_005529.7(HSPG2):c.10260C>T (p.His3420=) rs35444472 0.10248
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_032575.3(GLIS2):c.*614G>A rs653539 0.10219
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_020779.4(WDR35):c.*1050T>C rs10197890 0.10201
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=) rs2229488 0.10195
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_020779.4(WDR35):c.*98T>C rs6748924 0.10155
NM_001048166.1(STIL):c.*316T>C rs11211488 0.10123
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_001127649.3(PEX26):c.-318A>G rs62239019 0.10068
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NM_005529.7(HSPG2):c.9502G>A (p.Ala3168Thr) rs2228349 0.10008
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=) rs2291312 0.09947
NM_020632.3(ATP6V0A4):c.*162C>T rs55832008 0.09943
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_006846.4(SPINK5):c.*330T>C rs72660265 0.09913
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_006208.3(ENPP1):c.*3271C>G rs1510 0.09857
NM_000553.6(WRN):c.-213G>A rs11574158 0.09853
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371 0.09713
NM_005708.5(GPC6):c.1248G>A (p.Thr416=) rs2274020 0.09700
NM_006005.3(WFS1):c.*253G>A rs1046322 0.09607
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384140.1(PCDH15):c.157+3A>G rs41274636 0.09581
NM_014028.4(OSTM1):c.*2283T>C rs112283202 0.09569
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_001127649.3(PEX26):c.*1635G>C rs361703 0.09478
NM_017433.5(MYO3A):c.480G>T (p.Thr160=) rs12257119 0.09365
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_000082.4(ERCC8):c.*439G>T rs4647155 0.09291
NM_014028.4(OSTM1):c.*2344C>G rs113263335 0.09290
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.09210
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_014780.5(CUL7):c.-168C>T rs3737186 0.09184
NM_207361.6(FREM2):c.*992T>C rs9532297 0.09184
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_207361.6(FREM2):c.*5335A>G rs9548524 0.09168
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=) rs6732060 0.09129
NM_020631.5(PLEKHG5):c.*1304G>A rs45604837 0.09117
NM_001099287.2(NIPAL4):c.1172C>T (p.Ser391Leu) rs61743233 0.09106
NM_001145809.2(MYH14):c.1483-10G>A rs73061136 0.09105
NM_004560.4(ROR2):c.498T>C (p.Asp166=) rs16907720 0.09084
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) rs34759087 0.09080
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=) rs34290943 0.09068
NM_153676.4(USH1C):c.1086-12G>A rs11024318 0.09048
NM_020661.4(AICDA):c.*1028C>T rs7304723 0.09017
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_174878.3(CLRN1):c.*884A>C rs12635299 0.08952
NM_014028.4(OSTM1):c.*2329G>T rs112792700 0.08905
NM_025074.7(FRAS1):c.-65T>C rs6832285 0.08887
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_022336.4(EDAR):c.*757T>C rs3749097 0.08815
NM_014053.4(FLVCR1):c.*1940G>A rs6697126 0.08778
NM_000271.5(NPC1):c.-22A>C rs2303880 0.08768
NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) rs6068816 0.08737
NM_004525.3(LRP2):c.8453-11T>C rs11898106 0.08732
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_000553.5(WRN):c.-618C>G rs7017069 0.08717
NM_025074.7(FRAS1):c.*1995G>T rs72873318 0.08697
NM_006208.3(ENPP1):c.*4636C>T rs11963615 0.08655
NM_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_017433.5(MYO3A):c.-15T>A rs11014875 0.08552
NM_017433.5(MYO3A):c.-18G>A rs10128298 0.08551
NM_017791.3(FLVCR2):c.-71C>T rs11849590 0.08526
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431 0.08453
NM_014053.4(FLVCR1):c.*353A>G rs6679775 0.08452
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_001256317.3(TMPRSS3):c.157G>A (p.Val53Ile) rs928302 0.08425
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_006005.3(WFS1):c.*274A>G rs1046325 0.08190
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_001374623.1(PNPLA1):c.1595+653G>A rs4713957 0.08088
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) rs12540919 0.07873
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_003839.4(TNFRSF11A):c.*2537G>A rs72933641 0.07811
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_018389.5(SLC35C1):c.*1580C>T rs10838518 0.07780
NM_006892.4(DNMT3B):c.*443C>T rs6058896 0.07771
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_182548.4(LHFPL5):c.*345G>A rs2766530 0.07731
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_006005.3(WFS1):c.*90G>A rs1802453 0.07690
NM_000782.5(CYP24A1):c.990+9G>A rs6022993 0.07682
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07647
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07623
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07623
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_005529.7(HSPG2):c.3557G>A (p.Arg1186Gln) rs2229481 0.07593
NM_001080476.3(GRXCR1):c.140C>T (p.Ala47Val) rs57655409 0.07551
NM_001099287.2(NIPAL4):c.*1647T>C rs11749762 0.07540
NM_207361.6(FREM2):c.*1041C>T rs9548521 0.07524
NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser) rs28546127 0.07520
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_147196.3(TMIE):c.*975G>A rs4683315 0.07485
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_003332.4(TYROBP):c.*25A>C rs1802029 0.07474
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_001145809.2(MYH14):c.1755C>T (p.Gly585=) rs61731838 0.07411
NM_000260.4(MYO7A):c.*504C>T rs34765389 0.07374
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000123.4(ERCC5):c.-72C>T rs2296148 0.07351
NM_001127453.2(GSDME):c.*527C>T rs6957782 0.07350
NM_003839.4(TNFRSF11A):c.*1810G>C rs72933640 0.07294
NM_014028.4(OSTM1):c.*2755A>G rs6921341 0.07269
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) rs5756130 0.07263
NM_001379180.1(ESRRB):c.144C>A (p.Ile48=) rs35544003 0.07261
NM_002855.5(NECTIN1):c.*2857A>C rs7944707 0.07251
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) rs35590577 0.07163
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_000782.5(CYP24A1):c.*872C>T rs11907350 0.07142
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_001127453.2(GSDME):c.*273C>T rs17149888 0.07118
NM_002485.5(NBN):c.*1961T>C rs13312987 0.07113
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_002485.5(NBN):c.*757A>G rs13312981 0.07109
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_020631.6(PLEKHG5):c.43+13G>A rs78593902 0.07001
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) rs11554400 0.06936
NM_001098484.3(SLC4A4):c.*1377G>C rs3775157 0.06925
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284 0.06918
NM_006397.3(RNASEH2A):c.550-11T>C rs7247253 0.06913
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=) rs7257575 0.06903
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_021252.5(RAB18):c.*2375A>G rs2477317 0.06862
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_033028.5(BBS4):c.-17C>T rs56368716 0.06844
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_001127671.2(LIFR):c.*4854A>G rs35853268 0.06740
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06671
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=) rs2742343 0.06625
NM_000553.5(WRN):c.-278G>C rs11574157 0.06618
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_000320.3(QDPR):c.345G>A (p.Ser115=) rs3733570 0.06567
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_018319.4(TDP1):c.-21C>T rs34348197 0.06559
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_153717.3(EVC):c.*2009T>C rs79152885 0.06541
NM_153717.3(EVC):c.*53T>C rs7676531 0.06533
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001039958.2(MESP2):c.412G>A (p.Val138Met) rs28462216 0.06491
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala) rs8057701 0.06483
NM_002855.5(NECTIN1):c.*727T>C rs11603655 0.06453
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_024685.4(BBS10):c.*498A>G rs79517322 0.06435
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_001099287.2(NIPAL4):c.*79C>T rs9313608 0.06391
NM_001099287.2(NIPAL4):c.*566C>A rs10476052 0.06380
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_001127649.3(PEX26):c.*1623G>T rs114698763 0.06369
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) rs35774552 0.06352
NM_005529.7(HSPG2):c.8622C>T (p.His2874=) rs62642513 0.06306
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_004937.3(CTNS):c.*527G>A rs79668190 0.06278
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
NM_001145809.2(MYH14):c.1149T>C (p.Phe383=) rs61734424 0.06194
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000208.4(INSR):c.*4195T>C rs1366601 0.06149
NM_022464.5(SIL1):c.-6C>G rs11555154 0.06144
NM_207361.6(FREM2):c.2602C>G (p.Leu868Val) rs7329939 0.06144
NM_000287.4(PEX6):c.*319C>T rs736158 0.06143
NM_207361.6(FREM2):c.2165G>A (p.Arg722Lys) rs58363253 0.06139
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_018972.4(GDAP1):c.*1173G>T rs72665430 0.06104
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_000208.4(INSR):c.*4186T>C rs1366600 0.06049
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_004937.2(CTNS):c.-520T>C rs111977802 0.06010
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145 0.06002
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_004937.2(CTNS):c.-458C>T rs11657606 0.05976
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_018319.4(TDP1):c.*1448G>A rs34004710 0.05962
NM_004560.4(ROR2):c.*1016T>G rs1135169 0.05960
NM_018319.4(TDP1):c.*1452C>T rs34923595 0.05957
NM_004560.4(ROR2):c.*712C>T rs1135150 0.05951
NM_006996.3(SLC19A2):c.*1814G>A rs12091844 0.05951
NM_018319.4(TDP1):c.*1460C>G rs35944390 0.05950
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522 0.05945
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=) rs41307806 0.05882
NM_005708.5(GPC6):c.*4066A>C rs41275872 0.05872
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) rs17123657 0.05837
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) rs2230577 0.05836
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744 0.05786
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_022098.4(XPNPEP3):c.*3366C>T rs12168248 0.05737
NM_022098.4(XPNPEP3):c.*3137C>G rs12168140 0.05733
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_022098.4(XPNPEP3):c.*2958G>A rs9623284 0.05707
NM_005529.7(HSPG2):c.825G>A (p.Leu275=) rs41307868 0.05694
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_025074.7(FRAS1):c.6924C>T (p.Val2308=) rs13123710 0.05675
NM_006397.3(RNASEH2A):c.637+13G>A rs73503453 0.05671
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_032575.3(GLIS2):c.-11G>A rs28449480 0.05644
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) rs3829749 0.05620
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099 0.05590
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_022098.4(XPNPEP3):c.*3690G>T rs150218150 0.05556
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_004100.5(EYA4):c.*3014T>C rs76510133 0.05509
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=) rs112471131 0.05506
NM_018075.5(ANO10):c.*432G>T rs17075612 0.05474
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_018389.5(SLC35C1):c.*414G>A rs1139267 0.05406
NM_006846.4(SPINK5):c.1344G>A (p.Arg448=) rs17107741 0.05403
NM_000414.4(HSD17B4):c.*260A>G rs28943596 0.05395
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_006208.3(ENPP1):c.*3838G>A rs59958908 0.05378
NM_207361.6(FREM2):c.-260A>G rs7997838 0.05375
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_000286.3(PEX12):c.-534C>T rs2278950 0.05335
NM_207361.6(FREM2):c.303C>A (p.Pro101=) rs8002488 0.05332
NM_022124.6(CDH23):c.3580-12C>T rs73275848 0.05331
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_018319.4(TDP1):c.-224A>G rs35439694 0.05316
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_006005.3(WFS1):c.*241T>C rs60985011 0.05284
NM_153676.4(USH1C):c.2226+12C>T rs17703528 0.05274
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His) rs1868463 0.05268
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_022336.4(EDAR):c.*1248G>T rs75155869 0.05209
NM_014028.4(OSTM1):c.*2547G>A rs111332944 0.05196
NM_022124.6(CDH23):c.67+12C>T rs74144963 0.05182
NM_139319.3(SLC17A8):c.*71T>C rs75599713 0.05167
NM_020779.4(WDR35):c.*1489G>A rs10182866 0.05128
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563 0.05118
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=) rs55863869 0.05117
NM_001039958.2(MESP2):c.558G>A (p.Gln186=) rs28546919 0.05106
NM_000082.4(ERCC8):c.*519C>A rs4647157 0.05096
NM_004525.3(LRP2):c.*544T>C rs79052831 0.05096
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_001099287.2(NIPAL4):c.*1733G>T rs11739062 0.05086
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_022098.4(XPNPEP3):c.*4362C>G rs9623286 0.05075
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344 0.05063
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000782.5(CYP24A1):c.-76C>T rs73913755 0.05036
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_004086.3(COCH):c.1477+9C>A rs17097458 0.05034
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_001048166.1(STIL):c.-44+15G>A rs13376465 0.05019
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_022098.4(XPNPEP3):c.*4586G>A rs9619920 0.04950
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469 0.04935
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215 0.04932
NM_182961.4(SYNE1):c.10145+12T>C rs112401775 0.04924
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_006846.4(SPINK5):c.-61A>C rs74572734 0.04900
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_022098.4(XPNPEP3):c.*2978G>A rs9623285 0.04861
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_194248.3(OTOF):c.*696A>G rs55744034 0.04838
NM_033028.4(BBS4):c.-38C>A rs11637927 0.04836
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_022098.4(XPNPEP3):c.*467C>T rs12169203 0.04815
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=) rs35114151 0.04805
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04799
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_004407.4(DMP1):c.*905A>G rs73843105 0.04782
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04762
NM_004937.3(CTNS):c.*1665A>G rs112317698 0.04756
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His) rs74316327 0.04745
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) rs9619601 0.04672
NM_006208.3(ENPP1):c.*1670T>C rs9493122 0.04663
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_006208.3(ENPP1):c.*735A>G rs12212882 0.04659
NM_006208.3(ENPP1):c.*1348T>C rs9483349 0.04649
NM_005708.5(GPC6):c.*3723T>G rs15600 0.04644
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_018319.4(TDP1):c.-177C>T rs35132667 0.04596
NM_005888.3(SLC25A3):c.-78G>A rs28372744 0.04592
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_145861.4(EDARADD):c.*1593G>T rs61736989 0.04569
NM_025074.7(FRAS1):c.2128A>C (p.Ile710Leu) rs345512 0.04568
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_000208.4(INSR):c.*3029T>C rs72988602 0.04550
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932 0.04528
NM_014028.4(OSTM1):c.*1161G>A rs17069228 0.04528
NM_006846.4(SPINK5):c.209+15C>T rs3752677 0.04511
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_022098.4(XPNPEP3):c.*6201A>T rs9917 0.04498
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser) rs17617459 0.04486
NM_001127671.2(LIFR):c.*5356A>G rs7713531 0.04455
NM_000441.2(SLC26A4):c.*1797G>C rs76820337 0.04454
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_025074.7(FRAS1):c.2575+15G>A rs79624813 0.04419
NM_002857.4(PEX19):c.*2353G>T rs9853 0.04407
NM_145861.4(EDARADD):c.-3G>A rs79233817 0.04402
NM_000208.4(INSR):c.*3623A>G rs77859571 0.04400
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) rs34915742 0.04398
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_004525.3(LRP2):c.4046-6T>C rs76714416 0.04392
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332 0.04384
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_004153.4(ORC1):c.*231C>T rs3087471 0.04368
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_194248.3(OTOF):c.*697G>A rs60182448 0.04365
NM_003193.5(TBCE):c.1068A>G (p.Leu356=) rs6666168 0.04346
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_006846.4(SPINK5):c.2965-10G>C rs58888156 0.04288
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_032119.4(ADGRV1):c.*60A>G rs41311627 0.04272
NM_000782.5(CYP24A1):c.1527C>T (p.Ile509=) rs61730999 0.04268
NM_020632.3(ATP6V0A4):c.-25C>G rs35301422 0.04265
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_024685.4(BBS10):c.*805T>C rs73390067 0.04252
NM_148919.4(PSMB8):c.129T>C (p.Ala43=) rs2071542 0.04233
NM_004100.5(EYA4):c.*1658C>T rs73546865 0.04226
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_024685.4(BBS10):c.-52C>T rs79580268 0.04214
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) rs34121009 0.04213
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_000163.5(GHR):c.*1934T>C rs62372049 0.04177
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_005708.5(GPC6):c.*255G>A rs9584224 0.04109
NM_004407.4(DMP1):c.*280C>T rs76370957 0.04084
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_006208.3(ENPP1):c.*2282G>A rs73778612 0.04080
NM_024753.5(TTC21B):c.2211+13A>G rs73969727 0.04080
NM_004525.3(LRP2):c.13155C>T (p.His4385=) rs16856476 0.04079
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_004525.3(LRP2):c.6040+15C>T rs17848168 0.04070
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_145861.4(EDARADD):c.*1613T>C rs61737025 0.04028
NM_004100.5(EYA4):c.-76C>T rs78081370 0.04026
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_032193.4(RNASEH2C):c.*1776C>T rs4645936 0.03991
NM_004999.4(MYO6):c.*1703C>T rs9360957 0.03977
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_021252.5(RAB18):c.*2744C>T rs12254670 0.03950
NM_021252.5(RAB18):c.*2449A>G rs12260532 0.03947
NM_018389.5(SLC35C1):c.*955C>A rs76564550 0.03946
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_021252.5(RAB18):c.*1412C>T rs10508723 0.03943
NM_021252.5(RAB18):c.*2476G>A rs12267298 0.03943
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_174878.3(CLRN1):c.*964C>T rs16863066 0.03941
NM_004937.3(CTNS):c.*1866C>T rs111430685 0.03936
NM_021252.5(RAB18):c.*387C>A rs12248740 0.03936
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) rs3729734 0.03927
NM_001127453.2(GSDME):c.863-6T>C rs55735863 0.03926
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_016239.4(MYO15A):c.7468G>A (p.Ala2490Thr) rs16960959 0.03924
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_000163.5(GHR):c.*1770G>C rs144561552 0.03922
NM_025074.7(FRAS1):c.160G>C (p.Asp54His) rs17003071 0.03918
NM_001127453.2(GSDME):c.*30C>T rs17274530 0.03910
NM_130384.3(ATRIP):c.*2083T>C rs3135946 0.03909
NM_014028.4(OSTM1):c.*2887G>A rs41287526 0.03905
NM_020661.4(AICDA):c.*1297G>A rs140765460 0.03904
NM_001139.3(ALOX12B):c.42C>T (p.Leu14=) rs3027308 0.03900
NM_000317.3(PTS):c.405T>C (p.Thr135=) rs59731976 0.03898
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_153717.3(EVC):c.*908G>A rs13119698 0.03897
NM_207361.6(FREM2):c.*5612T>G rs200747289 0.03887
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_022124.6(CDH23):c.-258G>A rs139742443 0.03851
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) rs17848149 0.03848
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_005529.7(HSPG2):c.6552G>A (p.Thr2184=) rs34443576 0.03836
NM_005529.7(HSPG2):c.8026-5T>C rs35917892 0.03832
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_005529.7(HSPG2):c.6673G>A (p.Gly2225Ser) rs35669711 0.03830
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_005529.7(HSPG2):c.7806C>A (p.Val2602=) rs12737091 0.03827
NM_004937.3(CTNS):c.*1633C>G rs112032534 0.03822
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile) rs2229475 0.03821
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_004937.3(CTNS):c.*1595C>T rs112299490 0.03812
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) rs79413475 0.03753
NM_014028.4(OSTM1):c.*2053C>T rs17069215 0.03750
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_014028.4(OSTM1):c.*1352A>G rs9372179 0.03746
NM_014028.4(OSTM1):c.*1334T>C rs9374008 0.03745
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001127649.3(PEX26):c.*754A>G rs114146293 0.03730
NM_000318.3(PEX2):c.*1141G>A rs10108054 0.03721
NM_001127671.2(LIFR):c.*5225C>T rs58755763 0.03718
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466 0.03715
NM_000318.3(PEX2):c.*1909G>T rs112352942 0.03714
NM_000318.3(PEX2):c.*2446C>T rs73242165 0.03710
NM_001127671.2(LIFR):c.*4243A>G rs73749255 0.03708
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03705
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_152618.3(BBS12):c.*613T>C rs74451613 0.03678
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_144596.4(TTC8):c.1432-12T>C rs79747892 0.03653
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_005708.5(GPC6):c.*4182C>A rs41275874 0.03649
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_144596.4(TTC8):c.*472A>C rs59300815 0.03638
NM_001099287.2(NIPAL4):c.*1140G>T rs74580303 0.03607
NM_001194998.2(CEP152):c.*170T>C rs2169757 0.03605
NM_014028.4(OSTM1):c.*1574A>G rs41287528 0.03604
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889 0.03588
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_004937.3(CTNS):c.*2115G>A rs77196744 0.03574
NM_014028.4(OSTM1):c.*1367G>A rs73504439 0.03564
NM_025074.7(FRAS1):c.*3092A>G rs17003335 0.03563
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_006208.3(ENPP1):c.*3017C>T rs1931009 0.03561
NM_025074.7(FRAS1):c.*388C>G rs75970105 0.03561
NM_000211.5(ITGB2):c.499+7C>T rs17004715 0.03552
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_003193.5(TBCE):c.-49T>C rs55980101 0.03537
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_198428.3(BBS9):c.1017-6T>C rs61756571 0.03520
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503 0.03516
NM_000260.4(MYO7A):c.*230A>G rs112830819 0.03507
NM_000318.3(PEX2):c.*2338C>T rs56231626 0.03506
NM_006208.3(ENPP1):c.*2036A>G rs73778611 0.03506
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_001384140.1(PCDH15):c.4368-1214G>C rs16937780 0.03481
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_002857.4(PEX19):c.*487T>A rs16831724 0.03465
NM_000320.3(QDPR):c.255C>T (p.Cys85=) rs12645938 0.03464
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_005219.5(DIAPH1):c.*1347C>G rs251020 0.03434
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377 0.03424
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03417
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_000318.3(PEX2):c.*2142A>G rs79700176 0.03415
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_006208.3(ENPP1):c.*3706G>A rs12205225 0.03390
NM_022098.4(XPNPEP3):c.*4561G>A rs9611438 0.03353
NM_022098.4(XPNPEP3):c.*3351C>T rs9611437 0.03348
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_006846.4(SPINK5):c.*59C>T rs73794699 0.03338
NM_001139.3(ALOX12B):c.-158G>T rs116492351 0.03320
NM_001083961.2(WDR62):c.562-13C>T rs78138007 0.03315
NM_032575.3(GLIS2):c.*1333C>G rs11544635 0.03314
NM_000553.6(WRN):c.*570A>G rs11574415 0.03313
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470 0.03313
NM_004937.3(CTNS):c.-230+11A>G rs116000219 0.03310
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570 0.03296
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_000318.3(PEX2):c.*1696C>T rs112199677 0.03286
NM_000553.6(WRN):c.-163C>G rs11574160 0.03283
NM_001145809.2(MYH14):c.1890C>T (p.Val630=) rs77895476 0.03277
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_000553.5(WRN):c.-408C>T rs11574156 0.03268
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001013693.3(LDLRAD2):c.*109G>A rs1049675 0.03248
NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=) rs112494360 0.03245
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_006397.3(RNASEH2A):c.-16T>C rs1046220 0.03226
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_020632.3(ATP6V0A4):c.*111C>A rs75920897 0.03190
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648 0.03180
NM_022336.4(EDAR):c.*1900C>T rs200762071 0.03161
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557 0.03157
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_018319.4(TDP1):c.*393T>C rs7150480 0.03142
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_033064.5(ATCAY):c.*1586T>C rs10411454 0.03139
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_032193.4(RNASEH2C):c.*2097C>T rs4645934 0.03137
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_002857.4(PEX19):c.*1084T>C rs77962224 0.03113
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_004560.4(ROR2):c.276C>T (p.Asn92=) rs56227711 0.03061
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.03061
NM_001098484.3(SLC4A4):c.1014C>T (p.His338=) rs34373561 0.03058
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992 0.03038
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_033064.5(ATCAY):c.*806A>G rs73919392 0.03009
NM_002485.5(NBN):c.*937T>C rs11987865 0.03004
NM_022336.4(EDAR):c.*1133C>T rs114097029 0.03003
NM_002485.5(NBN):c.*790T>G rs11987887 0.03002
NM_005529.7(HSPG2):c.12212C>T (p.Ala4071Val) rs74859884 0.02997
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_024570.4(RNASEH2B):c.-210G>C rs112702177 0.02962
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_002700.3(POU4F3):c.90C>T (p.Ala30=) rs28994879 0.02948
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) rs9480830 0.02937
NM_002485.5(NBN):c.*1692A>G rs13312986 0.02926
NM_002485.5(NBN):c.*2212G>A rs10464867 0.02921
NM_015404.4(WHRN):c.-257C>G rs73555447 0.02919
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_033064.5(ATCAY):c.*976C>G rs73919393 0.02901
NM_015910.7(WDPCP):c.*195G>A rs55807617 0.02897
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_033064.5(ATCAY):c.*1542C>T rs10404967 0.02886
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_002473.6(MYH9):c.3100+11G>C rs41279999 0.02869
NM_000782.5(CYP24A1):c.*438C>T rs16999060 0.02867
NM_000782.5(CYP24A1):c.1121T>C (p.Met374Thr) rs6022990 0.02863
NM_000782.5(CYP24A1):c.*77T>G rs16999067 0.02858
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859 0.02854
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_001023570.4(IQCB1):c.-193T>C rs114555283 0.02852
NM_002473.6(MYH9):c.*312C>T rs16996639 0.02830
NM_002635.4(SLC25A3):c.*221T>G rs115173420 0.02826
NM_021252.5(RAB18):c.*3584C>T rs11015862 0.02826
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_025074.7(FRAS1):c.6608C>T (p.Thr2203Ile) rs114373602 0.02814
NM_024753.5(TTC21B):c.*105G>A rs74548052 0.02812
NM_025074.7(FRAS1):c.6691G>A (p.Gly2231Arg) rs76623027 0.02812
NM_025074.7(FRAS1):c.6754G>A (p.Ala2252Thr) rs78404051 0.02812
NM_001145809.2(MYH14):c.474T>C (p.Ile158=) rs34796700 0.02809
NM_025074.7(FRAS1):c.6010+13C>T rs75774018 0.02805
NM_025074.7(FRAS1):c.6039T>C (p.Ser2013=) rs76472539 0.02805
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_025074.7(FRAS1):c.6010+10G>A rs78537685 0.02804
NM_000067.3(CA2):c.*212A>G rs73263450 0.02796
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_014053.4(FLVCR1):c.*1751C>T rs187971996 0.02794
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp) rs17848169 0.02788
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_001145809.2(MYH14):c.5281C>A (p.Arg1761=) rs116035034 0.02785
NM_018075.5(ANO10):c.*196C>A rs73831274 0.02784
NM_025074.7(FRAS1):c.682T>C (p.Tyr228His) rs7682296 0.02766
NM_025074.7(FRAS1):c.625C>T (p.Pro209Ser) rs7699637 0.02763
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02755
NM_018075.5(ANO10):c.*444C>T rs114518528 0.02745
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_006846.4(SPINK5):c.531G>A (p.Arg177=) rs35121983 0.02736
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02717
NM_024649.5(BBS1):c.*428G>C rs41302425 0.02701
NM_002473.6(MYH9):c.*137C>A rs114268057 0.02699
NM_002473.6(MYH9):c.*136C>A rs115869378 0.02697
NM_006005.3(WFS1):c.*567C>G rs12508118 0.02697
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752 0.02687
NM_025074.7(FRAS1):c.470-4C>G rs59429199 0.02676
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_025074.7(FRAS1):c.7758C>T (p.Ile2586=) rs77602894 0.02660
NM_025074.7(FRAS1):c.7701G>A (p.Lys2567=) rs79849142 0.02656
NM_001127649.3(PEX26):c.*2878C>T rs116424707 0.02655
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_004525.3(LRP2):c.11759-11T>G rs17848191 0.02650
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02649
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_005982.4(SIX1):c.*602G>C rs78909843 0.02638
NM_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_004407.4(DMP1):c.*457T>C rs6842411 0.02615
NM_001374623.1(PNPLA1):c.715-9C>T rs73421652 0.02610
NM_004407.4(DMP1):c.*329A>C rs6816379 0.02610
NM_014053.4(FLVCR1):c.*377T>C rs41258034 0.02608
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_001127649.3(PEX26):c.*1608G>A rs116824049 0.02602
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_005982.4(SIX1):c.*404A>G rs76116881 0.02596
NM_006208.3(ENPP1):c.*3784T>C rs116417632 0.02593
NM_001127453.2(GSDME):c.*87A>G rs10266655 0.02589
NM_138691.3(TMC1):c.-540C>T rs112220638 0.02586
NM_014780.5(CUL7):c.4794G>A (p.Lys1598=) rs61437700 0.02584
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_000163.5(GHR):c.*1790G>A rs2973016 0.02583
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_194248.3(OTOF):c.766-3C>T rs55886964 0.02560
NM_000163.5(GHR):c.*692C>A rs17839373 0.02559
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=) rs7017210 0.02559
NM_002857.4(PEX19):c.*2417C>T rs193290301 0.02557
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000208.4(INSR):c.*1974_*1975del rs148930499 0.02551
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_004100.5(EYA4):c.*2302G>A rs41286208 0.02535
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568 0.02524
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_207361.6(FREM2):c.1941C>T (p.Asp647=) rs41292751 0.02517
NM_207361.6(FREM2):c.4077T>A (p.Gly1359=) rs41292757 0.02517
NM_138691.3(TMC1):c.*183A>G rs71507808 0.02514
NM_004937.3(CTNS):c.*1578C>G rs142813435 0.02513
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_207361.6(FREM2):c.*5600G>T rs74793552 0.02508
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_000123.4(ERCC5):c.*89G>A rs4150390 0.02491
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) rs17123655 0.02475
NM_170784.3(MKKS):c.*38A>G rs79940214 0.02456
NM_170784.3(MKKS):c.*46G>T rs74703166 0.02454
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_001194998.2(CEP152):c.191+11G>A rs75503597 0.02449
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) rs34299942 0.02447
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=) rs56316209 0.02444
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_025074.7(FRAS1):c.*751T>G rs6832584 0.02441
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_001127649.3(PEX26):c.*1003T>G rs79085553 0.02437
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_001256317.3(TMPRSS3):c.-51-7G>C rs4920100 0.02415
NM_194248.3(OTOF):c.4341G>A (p.Glu1447=) rs80214437 0.02415
NM_006208.3(ENPP1):c.*3625G>A rs150482147 0.02409
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832 0.02406
NM_182961.4(SYNE1):c.7556+14A>G rs78034368 0.02406
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329 0.02401
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_001145809.2(MYH14):c.4753-9C>T rs45591233 0.02396
NM_021252.5(RAB18):c.*3129C>T rs78270485 0.02396
NM_000318.3(PEX2):c.*458G>A rs143201132 0.02392
NM_002855.5(NECTIN1):c.*537C>T rs114119887 0.02390
NM_020632.3(ATP6V0A4):c.512+4A>G rs78194949 0.02390
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_173477.5(USH1G):c.*63C>T rs113765180 0.02386
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_025074.7(FRAS1):c.6010+8A>G rs7670555 0.02371
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001127649.3(PEX26):c.*2701G>C rs114075265 0.02360
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_018075.5(ANO10):c.486C>T (p.Leu162=) rs34829628 0.02348
NM_014053.4(FLVCR1):c.*891A>G rs41301029 0.02342
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_022098.4(XPNPEP3):c.*4702G>A rs5758133 0.02338
NM_000543.5(SMPD1):c.*74A>C rs1803160 0.02334
NM_000302.4(PLOD1):c.*71C>G rs2230899 0.02327
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477 0.02312
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) rs10067298 0.02309
NM_153717.3(EVC):c.*1375A>G rs114994758 0.02309
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_021628.3(ALOXE3):c.785-14C>T rs113539426 0.02299
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_021628.3(ALOXE3):c.-99C>G rs112227180 0.02269
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_020661.4(AICDA):c.*1694A>G rs75351379 0.02262
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_025074.7(FRAS1):c.6252C>T (p.Asn2084=) rs114956797 0.02261
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_002857.4(PEX19):c.*2637G>A rs41265787 0.02253
NM_001042472.3(ABHD12):c.-94C>T rs536190889 0.02252
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp) rs181415619 0.02251
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His) rs61743589 0.02230
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_004836.7(EIF2AK3):c.-172C>T rs71414432 0.02228
NM_014028.4(OSTM1):c.*3329A>G rs112424495 0.02226
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_014028.4(OSTM1):c.*3319T>G rs112919802 0.02222
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_182961.4(SYNE1):c.*583A>G rs3756933 0.02216
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_033064.5(ATCAY):c.*1036G>C rs73919394 0.02206
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_025074.7(FRAS1):c.*78G>T rs77632937 0.02198
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02192
NM_138694.4(PKHD1):c.*3025C>T rs2771012 0.02192
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_002857.4(PEX19):c.*898A>G rs8989 0.02188
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_207361.6(FREM2):c.8226C>T (p.Ala2742=) rs17058710 0.02172
NM_015404.4(WHRN):c.*438T>G rs114641960 0.02166
NM_022336.4(EDAR):c.*895C>T rs115259025 0.02162
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=) rs76634951 0.02157
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_025074.7(FRAS1):c.7633G>A (p.Asp2545Asn) rs4388111 0.02134
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_001267550.2(TTN):c.*664G>T rs72629796 0.02133
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000334.4(SCN4A):c.*1611A>G rs16947280 0.02126
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_014780.5(CUL7):c.2555G>A (p.Arg852Gln) rs34574340 0.02119
NM_005708.5(GPC6):c.*338A>C rs7327686 0.02117
NM_004086.3(COCH):c.*407C>T rs7152503 0.02116
NM_006892.4(DNMT3B):c.-274C>T rs139762513 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_021628.3(ALOXE3):c.*111T>C rs75605551 0.02113
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636 0.02108
NM_000557.5(GDF5):c.-135G>A rs73094730 0.02106
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103
NM_005708.5(GPC6):c.*2407A>T rs73553865 0.02098
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_015294.6(TRIM37):c.-224A>G rs11541295 0.02079
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_021252.5(RAB18):c.*757G>T rs76051289 0.02074
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_004525.3(LRP2):c.*253T>C rs61116673 0.02066
NM_139319.3(SLC17A8):c.*817A>T rs56156523 0.02065
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_006005.3(WFS1):c.*333C>A rs111800114 0.02051
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_001127671.2(LIFR):c.*1554C>G rs1428604 0.02039
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_022336.4(EDAR):c.*999C>T rs10206737 0.02037
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_018319.4(TDP1):c.*539G>A rs35090050 0.02032
NM_005529.7(HSPG2):c.1776C>T (p.His592=) rs62642536 0.02028
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_000163.5(GHR):c.1473C>T (p.Ser491=) rs6176 0.02017
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_000208.4(INSR):c.*224C>T rs2860171 0.02007
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_018136.5(ASPM):c.3391-14G>T rs80058948 0.02003
NM_016219.5(MAN1B1):c.*157C>G rs61545361 0.02001
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_014053.4(FLVCR1):c.*855T>C rs564661630 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_000211.5(ITGB2):c.1893C>T (p.Cys631=) rs17004713 0.01984
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_015311.3(OBSL1):c.-42T>C rs879691022 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000553.6(WRN):c.1155G>A (p.Glu385=) rs2230010 0.01974
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) rs9293547 0.01974
NM_173477.5(USH1G):c.*1112C>T rs114353953 0.01972
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) rs61745291 0.01969
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_004525.3(LRP2):c.6045C>T (p.Ala2015=) rs34834388 0.01962
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667 0.01960
NM_002700.3(POU4F3):c.837G>T (p.Thr279=) rs6885298 0.01958
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067 0.01955
NM_033064.5(ATCAY):c.*507G>C rs116813246 0.01949
NM_001127671.2(LIFR):c.*4804C>T rs55917124 0.01942
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
NM_018081.2(WRAP53):c.-245G>C rs17883670 0.01940
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_021252.5(RAB18):c.*3939A>T rs1047915 0.01932
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_017791.3(FLVCR2):c.*991T>C rs117346030 0.01931
NM_022336.4(EDAR):c.*328G>A rs75703116 0.01927
NM_207361.6(FREM2):c.*1694A>G rs17443589 0.01925
NM_014321.4(ORC6):c.675T>C (p.Asp225=) rs34343511 0.01913
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_000208.4(INSR):c.2542+3A>G rs13306451 0.01900
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_000260.4(MYO7A):c.*363A>C rs115872143 0.01894
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu) rs17459809 0.01892
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191 0.01884
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr) rs114077522 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_006892.4(DNMT3B):c.1996+6C>T rs77355896 0.01863
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser) rs72766563 0.01854
NM_000208.4(INSR):c.2448G>A (p.Thr816=) rs2229434 0.01850
NM_000019.3(ACAT1):c.*555A>G rs111376037 0.01843
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_001127649.3(PEX26):c.*400C>T rs74988725 0.01840
NM_001127649.3(PEX26):c.*692T>C rs79936154 0.01840
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_002180.2(IGHMBP2):c.-68T>C rs57258566 0.01836
NM_001127649.3(PEX26):c.*943G>A rs79785382 0.01835
NM_025074.7(FRAS1):c.981+9C>T rs112081709 0.01835
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_207361.6(FREM2):c.6606G>A (p.Glu2202=) rs61749310 0.01827
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_001267550.2(TTN):c.-108G>A rs13422986 0.01823
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_005708.5(GPC6):c.*385G>A rs7325795 0.01818
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_000208.4(INSR):c.*1432C>T rs111557734 0.01814
NM_020779.4(WDR35):c.*3268C>T rs113280329 0.01807
NM_000082.4(ERCC8):c.*458T>C rs4647156 0.01803
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_020779.4(WDR35):c.*1479C>T rs77400381 0.01800
NM_000782.5(CYP24A1):c.-94A>G rs74424092 0.01798
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766 0.01798
NM_000281.4(PCBD1):c.*253T>A rs77029400 0.01796
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_001017420.3(ESCO2):c.*141T>C rs200666958 0.01790
NM_004525.3(LRP2):c.4344C>G (p.Ala1448=) rs35297090 0.01784
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_000543.5(SMPD1):c.*91C>T rs12273714 0.01778
NM_153717.3(EVC):c.*2277G>C rs28452978 0.01778
NM_006208.3(ENPP1):c.*477A>T rs113086095 0.01777
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) rs61732148 0.01767
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr) rs61744321 0.01766
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765 0.01766
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_017791.3(FLVCR2):c.*1040C>T rs8017131 0.01752
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609 0.01742
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270 0.01739
NM_153676.4(USH1C):c.-60T>C rs371444878 0.01736
NM_004525.3(LRP2):c.6035G>A (p.Arg2012Lys) rs4667596 0.01732
NM_025074.7(FRAS1):c.*1289G>A rs113324102 0.01731
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr) rs35126362 0.01730
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542 0.01720
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896 0.01715
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_006005.3(WFS1):c.*637T>C rs71528901 0.01713
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_198428.3(BBS9):c.*549A>G rs73690947 0.01710
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_000208.4(INSR):c.*2793C>A rs9282760 0.01708
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_006005.3(WFS1):c.*54A>G rs71526455 0.01704
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_006005.3(WFS1):c.*512C>T rs71528900 0.01701
NM_002857.4(PEX19):c.*328A>G rs115260345 0.01698
NM_032119.4(ADGRV1):c.-98G>A rs7706355 0.01695
NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782 0.01693
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_025074.7(FRAS1):c.2660C>G (p.Thr887Ser) rs74510691 0.01688
NM_032575.3(GLIS2):c.*173G>A rs139029261 0.01688
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375 0.01683
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_022098.4(XPNPEP3):c.*3003G>A rs8142521 0.01676
NM_022124.6(CDH23):c.4359+11G>A rs12242607 0.01676
NM_033064.5(ATCAY):c.*2026G>A rs147402942 0.01676
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_012210.4(TRIM32):c.*589G>A rs16933835 0.01666
NM_018319.4(TDP1):c.-230-4G>T rs28365053 0.01666
NM_012210.4(TRIM32):c.*845C>T rs111309723 0.01665
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945 0.01665
NM_207361.6(FREM2):c.*1624G>A rs17443575 0.01664
NM_194248.3(OTOF):c.129C>T (p.Asp43=) rs116525289 0.01663
NM_207361.6(FREM2):c.9429G>A (p.Gly3143=) rs41306662 0.01662
NM_003839.4(TNFRSF11A):c.*1913A>G rs12721435 0.01660
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_017755.6(NSUN2):c.537+9T>C rs116785933 0.01651
NM_003619.4(PRSS12):c.*672C>T rs72919299 0.01650
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_004937.3(CTNS):c.*851G>A rs75192283 0.01649
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met) rs61747678 0.01647
NM_001145809.2(MYH14):c.1024C>G (p.Pro342Ala) rs34498817 0.01645
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01645
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_020631.5(PLEKHG5):c.*765T>A rs538175057 0.01642
NM_004100.5(EYA4):c.*2685T>A rs41286210 0.01638
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_033064.5(ATCAY):c.*1423T>A rs184437292 0.01635
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
NM_000082.4(ERCC8):c.*36C>T rs4647152 0.01630
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_001127671.2(LIFR):c.*426G>A rs116625329 0.01616
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424 0.01608
NM_000208.4(INSR):c.3795-5C>T rs78312382 0.01607
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_024649.5(BBS1):c.*1215T>C rs115354748 0.01605
NM_153717.3(EVC):c.*615C>T rs73079505 0.01604
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070 0.01601
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_153717.3(EVC):c.*1083T>G rs71599850 0.01599
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395 0.01595
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_000243.3(MEFV):c.*133G>A rs2075849 0.01591
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_021628.3(ALOXE3):c.1543A>G (p.Ile515Val) rs3027205 0.01586
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_198428.3(BBS9):c.*138A>C rs59454255 0.01586
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_017929.5(PEX26):c.-148C>T rs115617644 0.01576
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000506.5(F2):c.1602G>A (p.Pro534=) rs5900 0.01567
NM_001254.4(CDC6):c.883G>A (p.Asp295Asn) rs4135012 0.01566
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_153717.3(EVC):c.*820C>T rs137860758 0.01565
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
NM_001127671.2(LIFR):c.*988G>A rs3776425 0.01550
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_021252.5(RAB18):c.*1542T>C rs10508724 0.01545
NM_003860.4(BANF1):c.*177G>A rs148797275 0.01543
NM_021252.5(RAB18):c.*504A>G rs12571836 0.01543
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_207361.6(FREM2):c.*3929G>T rs79571295 0.01542
NM_001127671.2(LIFR):c.*4056G>T rs73077449 0.01539
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_000286.3(PEX12):c.*636T>C rs111424374 0.01528
NM_000286.3(PEX12):c.*297T>C rs113891712 0.01526
NM_005529.7(HSPG2):c.9329-7C>T rs2270695 0.01525
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083 0.01524
NM_005529.7(HSPG2):c.9329-8C>T rs2270696 0.01521
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_014028.4(OSTM1):c.*212A>G rs17069239 0.01518
NM_025074.7(FRAS1):c.727A>G (p.Ile243Val) rs6848030 0.01516
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val) rs114956994 0.01512
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_000782.5(CYP24A1):c.-100T>C rs144737632 0.01502
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000208.4(INSR):c.*3592A>G rs75499056 0.01497
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_025074.7(FRAS1):c.1286C>A (p.Ser429Tyr) rs6838959 0.01491
NM_000441.2(SLC26A4):c.*1302T>G rs112019874 0.01487
NM_004525.3(LRP2):c.2726A>G (p.His909Arg) rs36082715 0.01487
NM_017791.3(FLVCR2):c.*1098C>A rs8017287 0.01484
NM_018389.5(SLC35C1):c.-173C>T rs78455013 0.01481
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_020661.4(AICDA):c.*1666G>T rs115523544 0.01479
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_020661.4(AICDA):c.*1206C>T rs147762245 0.01472
NM_005708.5(GPC6):c.*2605C>A rs113980048 0.01470
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515 0.01467
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_207361.6(FREM2):c.954C>G (p.Pro318=) rs9576597 0.01462
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_018136.5(ASPM):c.2307A>G (p.Ala769=) rs35897746 0.01457
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01454
NM_004407.4(DMP1):c.*603C>T rs78837592 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_006208.3(ENPP1):c.*3163C>T rs55670720 0.01449
NM_033064.5(ATCAY):c.*1235T>C rs148116098 0.01449
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_000211.5(ITGB2):c.59-15G>A rs74539155 0.01426
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_006208.3(ENPP1):c.*2900G>T rs78495668 0.01409
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_000208.3(INSR):c.*4794T>C rs10415841 0.01406
NM_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_001374623.1(PNPLA1):c.1595+384G>C rs146627469 0.01401
NM_004525.3(LRP2):c.5702C>G (p.Ala1901Gly) rs61995913 0.01399
NM_004525.3(LRP2):c.6810G>A (p.Val2270=) rs2228170 0.01397
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_000211.5(ITGB2):c.1657+9G>A rs114479227 0.01380
NM_020631.5(PLEKHG5):c.*1313C>T rs45574533 0.01380
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_000553.6(WRN):c.3384-3T>C rs3087424 0.01376
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_001278293.3(ARL6):c.480-8C>T rs77010939 0.01364
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_000208.4(INSR):c.*4218G>C rs10416396 0.01362
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_001278293.3(ARL6):c.*255C>T rs79196822 0.01359
NM_001127453.2(GSDME):c.*448T>C rs144061292 0.01358
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440 0.01355
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152 0.01347
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210 0.01346
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_006846.4(SPINK5):c.119G>C (p.Gly40Ala) rs73269156 0.01335
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198 0.01334
NM_001127671.2(LIFR):c.*6316C>T rs115572283 0.01333
NM_020661.4(AICDA):c.*718C>A rs74372815 0.01333
NM_017875.4(SLC25A38):c.-209A>G rs143903497 0.01332
NM_017755.6(NSUN2):c.*50T>G rs56282400 0.01331
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01323
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_025074.7(FRAS1):c.5208T>C (p.Leu1736=) rs35608396 0.01318
NM_032575.3(GLIS2):c.*232T>G rs114705511 0.01317
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_022098.4(XPNPEP3):c.*3411T>C rs115221268 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_138387.4(G6PC3):c.-152T>C rs149756661 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_001099287.2(NIPAL4):c.*1221C>T rs78888263 0.01299
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_014780.5(CUL7):c.3096C>T (p.Asp1032=) rs138276478 0.01292
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_000019.4(ACAT1):c.*179T>G rs114728153 0.01290
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_006397.3(RNASEH2A):c.*120C>T rs73925216 0.01285
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_001127649.3(PEX26):c.*464A>G rs141229564 0.01278
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly) rs61995915 0.01278
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_014028.4(OSTM1):c.*1427A>G rs116796449 0.01274
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NM_003673.4(TCAP):c.*377G>C rs3194794 0.01272
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_001384140.1(PCDH15):c.4368-1207C>T rs74134797 0.01267
NM_006208.3(ENPP1):c.*2301A>G rs115728089 0.01267
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295 0.01261
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_001145809.2(MYH14):c.4596C>T (p.Ala1532=) rs35453633 0.01258
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) rs6119965 0.01256
NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=) rs35169468 0.01254
NM_001145809.2(MYH14):c.6012A>T (p.Leu2004=) rs73932457 0.01253
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_004560.4(ROR2):c.*229C>T rs75004227 0.01251
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954 0.01249
NM_024685.4(BBS10):c.*1248A>G rs115516881 0.01249
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01249
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) rs41304884 0.01242
NM_025074.7(FRAS1):c.9759A>G (p.Pro3253=) rs61741742 0.01240
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_006005.3(WFS1):c.*131C>T rs55993016 0.01227
NM_000208.4(INSR):c.*2340A>G rs78987925 0.01226
NM_000208.4(INSR):c.*4602C>T rs10413914 0.01216
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_003619.4(PRSS12):c.1272T>G (p.Val424=) rs2292598 0.01208
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_005219.5(DIAPH1):c.*618G>C rs144081334 0.01207
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_000208.4(INSR):c.*3857C>T rs114405975 0.01204
NM_004937.3(CTNS):c.*2127G>A rs72835828 0.01197
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_025074.7(FRAS1):c.10494C>T (p.Thr3498=) rs149604281 0.01195
NM_000208.4(INSR):c.*2519G>A rs114982195 0.01193
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945 0.01193
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) rs41268685 0.01191
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_153717.3(EVC):c.*1700C>T rs74690944 0.01179
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) rs35764413 0.01175
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_006846.4(SPINK5):c.2754A>G (p.Glu918=) rs114635730 0.01171
NM_015102.5(NPHP4):c.*128A>C rs116747881 0.01171
NM_000082.4(ERCC8):c.*237T>C rs4647153 0.01170
NM_000271.5(NPC1):c.*164T>C rs8086463 0.01169
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543 0.01165
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_005219.5(DIAPH1):c.*1304A>G rs112580910 0.01163
NM_024596.5(MCPH1):c.*502T>C rs116253794 0.01163
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_020631.6(PLEKHG5):c.795+8G>A rs114275646 0.01154
NM_001083961.2(WDR62):c.2521-13G>C rs79646208 0.01151
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_000019.3(ACAT1):c.*250C>T rs79179095 0.01146
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_018451.5(CENPJ):c.*623A>G rs115136790 0.01144
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_005219.5(DIAPH1):c.*1364T>C rs116342492 0.01140
NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala) rs115820034 0.01140
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_015294.6(TRIM37):c.861-6C>T rs145324030 0.01135
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_033064.5(ATCAY):c.*1190G>A rs143684746 0.01134
NM_015294.6(TRIM37):c.1264T>C (p.Leu422=) rs74586224 0.01133
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_020631.5(PLEKHG5):c.*843G>T rs12735472 0.01132
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905 0.01127
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146 0.01121
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) rs6184 0.01120
NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile) rs7222388 0.01118
NM_000163.5(GHR):c.*781T>A rs17839374 0.01117
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_014028.4(OSTM1):c.*1082G>A rs148730821 0.01114
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_001374623.1(PNPLA1):c.1595+532G>C rs114437563 0.01107
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111 0.01102
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_000163.5(GHR):c.785-9G>A rs34190075 0.01100
NM_005529.7(HSPG2):c.1999-13C>T rs77828146 0.01100
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=) rs61747677 0.01096
NM_001127649.3(PEX26):c.*1778C>T rs79447039 0.01095
NM_001127649.3(PEX26):c.*1957G>A rs11913772 0.01094
NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) rs35398989 0.01093
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001145809.2(MYH14):c.4741G>A (p.Val1581Ile) rs680446 0.01091
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_033064.5(ATCAY):c.866+6A>G rs116660680 0.01088
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_001378454.1(ALMS1):c.*154G>C rs77779454 0.01084
NM_000318.3(PEX2):c.*1601T>A rs116949534 0.01081
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483 0.01081
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_012233.3(RAB3GAP1):c.*995T>C rs116237324 0.01076
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_033064.5(ATCAY):c.810C>T (p.Ile270=) rs61746441 0.01075
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683 0.01074
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_001085429.2(TMEM213):c.8G>A (p.Arg3His) rs138299222 0.01070
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_003332.4(TYROBP):c.*83C>T rs14715 0.01070
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001017420.3(ESCO2):c.-68T>G rs111510470 0.01068
NM_006846.4(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632 0.01067
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_006846.4(SPINK5):c.3186+8C>T rs115366845 0.01052
NM_021628.3(ALOXE3):c.680+9A>G rs3027214 0.01052
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081 0.01050
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=) rs61747675 0.01050
NM_021628.3(ALOXE3):c.555-14C>G rs116310580 0.01050
NM_001127671.2(LIFR):c.*1610T>G rs2731964 0.01049
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663 0.01046
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr) rs144081819 0.01045
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_018319.4(TDP1):c.*799A>G rs35437984 0.01042
NM_003630.3(PEX3):c.*205C>A rs78091135 0.01040
NM_005708.5(GPC6):c.*1094T>A rs9561552 0.01039
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_005708.5(GPC6):c.*672A>G rs116355843 0.01035
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_001351132.2(PEX5):c.*960C>G rs78134587 0.01032
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_021628.3(ALOXE3):c.2032C>T (p.Arg678Cys) rs143246503 0.01031
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_002485.5(NBN):c.*419C>T rs13312979 0.01028
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_025074.7(FRAS1):c.*2811T>A rs114574352 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000318.3(PEX2):c.*1242A>G rs73691481 0.01024
NM_001017420.3(ESCO2):c.510G>A (p.Val170=) rs112031297 0.01021
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_001145809.2(MYH14):c.5466G>A (p.Leu1822=) rs10419343 0.01020
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_178170.3(NEK8):c.*637C>G rs114191927 0.01020
NM_000318.3(PEX2):c.*2306A>G rs59296540 0.01019
NM_000318.3(PEX2):c.*2554G>A rs116215385 0.01018
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_001013693.3(LDLRAD2):c.*365G>A rs116354301 0.01017
NM_032119.4(ADGRV1):c.-47G>C rs116110048 0.01017
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=) rs7660641 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_025074.7(FRAS1):c.6124C>T (p.Pro2042Ser) rs60539739 0.01012
NM_144596.4(TTC8):c.*493T>C rs60082659 0.01012
NM_002473.6(MYH9):c.1626C>T (p.Phe542=) rs7285745 0.01011
NM_032575.3(GLIS2):c.*1130G>A rs7197512 0.01011
NM_001098484.3(SLC4A4):c.*2416A>G rs16846678 0.01010
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_022336.4(EDAR):c.*1107C>T rs73952545 0.01003
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_024753.5(TTC21B):c.*974C>G rs145794135 0.01001
NM_032193.4(RNASEH2C):c.*1007C>G rs112903919 0.01000
NM_004525.3(LRP2):c.5085G>A (p.Ser1695=) rs145384264 0.00999
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_000123.4(ERCC5):c.-200G>C rs76752300 0.00995
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_000163.5(GHR):c.1098A>G (p.Leu366=) rs116466139 0.00992
NM_033064.5(ATCAY):c.*2514A>G rs142048723 0.00992
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_025074.7(FRAS1):c.10278C>T (p.Ile3426=) rs34678339 0.00987
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_024685.4(BBS10):c.*87A>C rs138936387 0.00985
NM_025074.7(FRAS1):c.8959-11A>G rs112232078 0.00985
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_005529.7(HSPG2):c.5702-5G>A rs2290498 0.00977
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_000019.3(ACAT1):c.*293A>T rs73559273 0.00975
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_017791.3(FLVCR2):c.-111T>C rs80001297 0.00973
NM_173477.5(USH1G):c.*940C>G rs112293979 0.00971
NM_017755.6(NSUN2):c.*581T>C rs142451419 0.00970
NM_005982.4(SIX1):c.*1496C>T rs61993831 0.00969
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 0.00969
NM_000019.3(ACAT1):c.*507G>A rs12271846 0.00968
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471 0.00967
NM_002473.6(MYH9):c.*243C>T rs136201 0.00965
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_000260.4(MYO7A):c.*442T>C rs115238711 0.00963
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_025216.3(WNT10A):c.817C>A (p.Leu273Ile) rs111903177 0.00958
NM_025216.3(WNT10A):c.85C>T (p.Leu29=) rs115839019 0.00957
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_004525.3(LRP2):c.1172-8G>A rs115371758 0.00955
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_022098.4(XPNPEP3):c.*6055A>C rs73412774 0.00955
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00953
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506 0.00953
NM_207361.6(FREM2):c.6339C>T (p.Pro2113=) rs116383837 0.00953
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_015294.6(TRIM37):c.*373A>G rs145973955 0.00951
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_203486.3(DLL3):c.1674-10C>T rs116099821 0.00950
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) rs34758606 0.00949
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_002485.5(NBN):c.*1013G>A rs13312984 0.00945
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834 0.00944
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_170784.3(MKKS):c.-58T>C rs114068950 0.00943
NM_207361.6(FREM2):c.*5019A>T rs76274648 0.00943
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_014053.4(FLVCR1):c.*1544A>G rs6685793 0.00936
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_001013693.3(LDLRAD2):c.*671C>T rs141025054 0.00933
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_025074.7(FRAS1):c.11720G>T (p.Gly3907Val) rs61748815 0.00933
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_000208.4(INSR):c.*3463A>G rs115358150 0.00928
NM_025074.7(FRAS1):c.10269G>T (p.Pro3423=) rs34806279 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser) rs8077661 0.00924
NM_003860.4(BANF1):c.*128C>A rs144367403 0.00924
NM_033064.5(ATCAY):c.*486A>C rs115839391 0.00924
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_025216.3(WNT10A):c.*431C>T rs77272502 0.00919
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_018075.5(ANO10):c.-90C>T rs565644253 0.00916
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_033064.5(ATCAY):c.*3154C>T rs116311313 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_025074.7(FRAS1):c.10002G>A (p.Glu3334=) rs80346282 0.00915
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_021252.5(RAB18):c.*278A>T rs41282848 0.00905
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_001127671.2(LIFR):c.*1484A>G rs75368466 0.00893
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) rs59882043 0.00887
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_000271.5(NPC1):c.-32C>T rs114070977 0.00885
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_016938.5(EFEMP2):c.*403C>G rs77540033 0.00883
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_021252.5(RAB18):c.*758A>T rs10508722 0.00879
NM_000067.3(CA2):c.*303C>T rs150089617 0.00878
NM_001145809.2(MYH14):c.5334T>C (p.Gly1778=) rs115844649 0.00878
NM_022336.4(EDAR):c.736G>A (p.Val246Met) rs79798733 0.00877
NM_178170.3(NEK8):c.*19T>C rs75850216 0.00876
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met) rs74781600 0.00872
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001127671.2(LIFR):c.*394C>A rs115958115 0.00870
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_001127671.2(LIFR):c.*546A>C rs3822427 0.00868
NM_006892.4(DNMT3B):c.*75C>G rs6119971 0.00868
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_022098.4(XPNPEP3):c.*809C>A rs57486044 0.00866
NM_001127671.2(LIFR):c.*1870G>A rs60287085 0.00865
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_006208.3(ENPP1):c.*400C>A rs55828988 0.00861
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_025074.7(FRAS1):c.*708C>A rs111636328 0.00860
NM_001127671.2(LIFR):c.*1459T>G rs75965322 0.00858
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993 0.00857
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_001127671.2(LIFR):c.*324G>A rs3797156 0.00855
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_006208.3(ENPP1):c.*1224A>G rs115623040 0.00854
NM_032575.3(GLIS2):c.*278C>T rs116692282 0.00854
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn) rs3729740 0.00852
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361 0.00852
NM_000163.5(GHR):c.-39G>C rs527709793 0.00851
NM_001127671.2(LIFR):c.*1005A>G rs3776424 0.00851
NM_003619.4(PRSS12):c.*1595A>G rs145858385 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_032193.4(RNASEH2C):c.*1295T>C rs4645937 0.00847
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_176824.3(BBS7):c.*1202G>A rs3217756 0.00843
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=) rs55685928 0.00841
NM_000019.3(ACAT1):c.*214G>C rs145690535 0.00839
NM_145861.4(EDARADD):c.*966A>G rs61740489 0.00838
NM_145861.4(EDARADD):c.*1174A>G rs61511776 0.00836
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_001098484.3(SLC4A4):c.*1206A>G rs72854469 0.00833
NM_207361.6(FREM2):c.*5344T>G rs7327183 0.00833
NM_000163.5(GHR):c.*693G>A rs113937917 0.00831
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=) rs114209691 0.00830
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_005708.5(GPC6):c.-137C>T rs188450235 0.00824
NM_014028.4(OSTM1):c.*2138G>T rs115370044 0.00824
NM_000057.4(BLM):c.*108C>T rs28363374 0.00823
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_004525.3(LRP2):c.2175C>T (p.Thr725=) rs141180155 0.00820
NM_006208.3(ENPP1):c.*4248G>A rs150587148 0.00820
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) rs74377704 0.00815
NM_031885.5(BBS2):c.*316A>G rs17341965 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_207361.6(FREM2):c.*2375C>G rs114706463 0.00802
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_020631.6(PLEKHG5):c.*63C>T rs45446394 0.00800
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_002180.3(IGHMBP2):c.*22C>T rs80298715 0.00795
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_000782.5(CYP24A1):c.*716G>A rs75213738 0.00792
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile) rs34564141 0.00790
NM_005708.5(GPC6):c.*271T>A rs114342753 0.00790
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_020631.6(PLEKHG5):c.*108G>A rs11800788 0.00786
NM_147127.5(EVC2):c.*394A>G rs138063943 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_021628.3(ALOXE3):c.2019C>T (p.Ala673=) rs148295244 0.00781
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_001145809.2(MYH14):c.3663C>T (p.Asn1221=) rs78573213 0.00779
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_000382.3(ALDH3A2):c.*36G>A rs138462610 0.00775
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937 0.00775
NM_004560.4(ROR2):c.*245A>G rs77664658 0.00775
NM_001017420.3(ESCO2):c.*491A>G rs149395052 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_138691.3(TMC1):c.-275G>A rs58824091 0.00773
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_182961.4(SYNE1):c.12079-12G>T rs73783853 0.00771
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met) rs11904930 0.00770
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_148919.4(PSMB8):c.222C>A (p.Thr74=) rs116638337 0.00770
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_198428.3(BBS9):c.*371G>A rs79271934 0.00768
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_000334.4(SCN4A):c.*1088A>G rs77725962 0.00759
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_006846.4(SPINK5):c.2895G>A (p.Lys965=) rs34966234 0.00755
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056 0.00752
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala) rs61744595 0.00751
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322 0.00741
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_003619.4(PRSS12):c.*912G>A rs10212745 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_001042472.3(ABHD12):c.*541G>A rs41304802 0.00734
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_033064.5(ATCAY):c.*2394C>T rs10406812 0.00732
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671 0.00731
NM_000286.3(PEX12):c.*781T>A rs185900922 0.00728
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569 0.00725
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725
NM_148919.4(PSMB8):c.*24G>T rs115441230 0.00724
NM_178170.3(NEK8):c.1641C>T (p.Ala547=) rs8073738 0.00724
NM_203486.3(DLL3):c.674G>A (p.Ser225Asn) rs35380611 0.00724
NM_004100.5(EYA4):c.*1484C>T rs116238383 0.00723
NM_025074.7(FRAS1):c.*709G>A rs115458096 0.00723
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_022124.6(CDH23):c.*173C>T rs143222936 0.00719
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_021628.3(ALOXE3):c.148-11G>C rs114372253 0.00716
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=) rs190695624 0.00710
NM_004525.3(LRP2):c.12811+12G>A rs112157558 0.00710
NM_025074.7(FRAS1):c.*2370G>A rs116617672 0.00710
NM_198428.3(BBS9):c.1694-6T>C rs28622379 0.00710
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_005982.4(SIX1):c.*297T>G rs147081368 0.00707
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_014780.5(CUL7):c.1780G>A (p.Ala594Thr) rs141065679 0.00707
NM_022098.4(XPNPEP3):c.*877A>G rs5995966 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) rs78257597 0.00706
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_024570.4(RNASEH2B):c.822+6T>C rs76413207 0.00705
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_004560.4(ROR2):c.*736A>G rs73654047 0.00701
NM_018972.4(GDAP1):c.*561C>G rs80136809 0.00699
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973 0.00694
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=) rs74921348 0.00694
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967 0.00689
NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_178170.3(NEK8):c.*430C>A rs4795455 0.00686
NM_005708.5(GPC6):c.256C>T (p.Leu86Phe) rs143872144 0.00684
NM_006892.4(DNMT3B):c.*895T>C rs116329759 0.00684
NM_207361.6(FREM2):c.*4249A>C rs116463058 0.00684
NM_005708.5(GPC6):c.991A>T (p.Met331Leu) rs78029763 0.00683
NM_033064.5(ATCAY):c.*1180C>T rs140608538 0.00683
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_004525.3(LRP2):c.2024T>C (p.Val675Ala) rs116332504 0.00668
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_000208.4(INSR):c.*2502A>G rs149795309 0.00665
NM_000208.4(INSR):c.*1089A>G rs116422284 0.00664
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_005529.7(HSPG2):c.9732C>T (p.His3244=) rs74782938 0.00664
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484 0.00664
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His) rs138774635 0.00663
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640 0.00662
NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe) rs191149379 0.00662
NM_006846.4(SPINK5):c.-19G>A rs12522603 0.00660
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_021628.3(ALOXE3):c.*24A>G rs111342695 0.00658
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=) rs113301188 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_000506.5(F2):c.813C>T (p.Gly271=) rs5899 0.00654
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026 0.00650
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545 0.00649
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_003383.5(VLDLR):c.449-12C>T rs73640152 0.00648
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln) rs115878217 0.00648
NM_145861.4(EDARADD):c.*1887G>A rs114783553 0.00647
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00645
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_005219.5(DIAPH1):c.*1597G>A rs76801798 0.00643
NM_000208.4(INSR):c.*3786G>C rs115012090 0.00642
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_000082.4(ERCC8):c.504A>G (p.Val168=) rs35366433 0.00639
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565 0.00639
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) rs61731030 0.00638
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260 0.00633
NM_153240.5(NPHP3):c.*759G>A rs116338839 0.00632
NM_001098484.3(SLC4A4):c.*2864G>A rs72854486 0.00630
NM_003332.4(TYROBP):c.94+10G>C rs55746266 0.00630
NM_014028.4(OSTM1):c.*355A>G rs61491262 0.00630
NM_025074.7(FRAS1):c.688-13T>C rs144657066 0.00629
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_001098484.3(SLC4A4):c.*1220G>A rs72854471 0.00627
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
NM_001098484.3(SLC4A4):c.*2353C>G rs72854484 0.00624
NM_001098484.3(SLC4A4):c.*2329A>C rs72854481 0.00622
NM_002292.4(LAMB2):c.3110-15T>C rs147446447 0.00622
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_001098484.3(SLC4A4):c.*1986G>A rs72854477 0.00620
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_005522.5(HOXA1):c.*1090C>T rs7786554 0.00620
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_017755.6(NSUN2):c.-27C>A rs190264173 0.00619
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_021252.4(RAB18):c.-83C>A rs115326586 0.00616
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_020779.4(WDR35):c.*1406A>G rs10197681 0.00613
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674 0.00612
NM_004525.3(LRP2):c.923-6G>A rs144147038 0.00611
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_024649.5(BBS1):c.*187C>T rs148117167 0.00609
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468 0.00602
NM_004560.4(ROR2):c.*886G>T rs114078962 0.00602
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_022464.5(SIL1):c.454-6C>T rs58624842 0.00601
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199 0.00600
NM_005708.5(GPC6):c.*1675C>T rs114974584 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_014053.4(FLVCR1):c.*500G>A rs41301023 0.00597
NM_207361.6(FREM2):c.2978A>G (p.Glu993Gly) rs61742843 0.00597
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757 0.00596
NM_001098484.3(SLC4A4):c.*1665C>T rs72854473 0.00592
NM_001254.4(CDC6):c.896C>T (p.Thr299Met) rs4135013 0.00591
NM_002180.3(IGHMBP2):c.*744G>A rs116625875 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_004937.3(CTNS):c.*1206T>C rs115239409 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_033064.5(ATCAY):c.*7G>A rs60814801 0.00577
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_207361.6(FREM2):c.*1379T>C rs150619967 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_020631.6(PLEKHG5):c.*27T>C rs117494970 0.00566
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680 0.00566
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_017791.3(FLVCR2):c.*573C>T rs116699854 0.00556
NM_000211.5(ITGB2):c.810G>A (p.Ala270=) rs61737077 0.00555
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_017791.3(FLVCR2):c.953-14G>A rs115200097 0.00554
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372 0.00552
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg) rs61747681 0.00547
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681 0.00543
NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val) rs116005784 0.00542
NM_018319.4(TDP1):c.*1105A>G rs34815305 0.00542
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_002180.3(IGHMBP2):c.1538-8C>G rs115320302 0.00540
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_002857.3(PEX19):c.-14T>G rs2301297 0.00535
NM_003896.4(ST3GAL5):c.*482G>A rs115544178 0.00535
NM_207361.6(FREM2):c.6330T>G (p.Leu2110=) rs112083916 0.00535
NM_004937.3(CTNS):c.*1165C>T rs112915401 0.00534
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_000782.5(CYP24A1):c.1529C>T (p.Ala510Val) rs116065115 0.00529
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982 0.00528
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_207361.6(FREM2):c.6396C>T (p.Phe2132=) rs61745902 0.00525
NM_153717.3(EVC):c.*2132A>G rs11939264 0.00524
NM_206933.4(USH2A):c.4627+641G>A rs146153666 0.00523
NM_006432.5(NPC2):c.*271C>T rs75936194 0.00521
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624 0.00513
NM_018972.4(GDAP1):c.*2244T>C rs113763295 0.00513
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843 0.00512
NM_145861.4(EDARADD):c.*285G>A rs142266831 0.00512
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_002700.3(POU4F3):c.663C>A (p.Gly221=) rs61737151 0.00511
NM_021252.5(RAB18):c.*1488A>C rs148630305 0.00510
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_005888.3(SLC25A3):c.-92G>A rs115763433 0.00509
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) rs115031369 0.00508
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_018972.4(GDAP1):c.*920C>G rs6982840 0.00506
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_001127671.2(LIFR):c.*6140C>G rs73077446 0.00501
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) rs61027880 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_003332.4(TYROBP):c.*140T>C rs113207157 0.00500
NM_020632.3(ATP6V0A4):c.1848C>T (p.Phe616=) rs143883618 0.00500
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_001098484.3(SLC4A4):c.*2152G>T rs151178899 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_014053.4(FLVCR1):c.*3241C>T rs113198161 0.00493
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_001127671.2(LIFR):c.*5634T>C rs149932478 0.00490
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_004100.5(EYA4):c.-445C>T rs112196731 0.00488
NM_020632.3(ATP6V0A4):c.1181-4G>A rs189734354 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00483
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683 0.00477
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_003896.4(ST3GAL5):c.*594G>A rs116456890 0.00476
NM_005522.5(HOXA1):c.174G>C (p.Gly58=) rs77832452 0.00476
NM_006432.5(NPC2):c.190+14G>A rs189666920 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001194998.2(CEP152):c.*194G>A rs144469727 0.00475
NM_022098.4(XPNPEP3):c.*5643C>G rs115817476 0.00474
NM_000302.4(PLOD1):c.*614G>T rs15431 0.00472
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_006005.3(WFS1):c.*242G>C rs80055761 0.00471
NM_006005.3(WFS1):c.-6+11C>T rs547998667 0.00469
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_020631.5(PLEKHG5):c.*1052G>A rs148036862 0.00467
NM_022098.4(XPNPEP3):c.590-9C>T rs149370388 0.00467
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_004407.4(DMP1):c.475C>A (p.Gln159Lys) rs79402270 0.00466
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433 0.00463
NM_017791.3(FLVCR2):c.*254T>C rs115212564 0.00463
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_025074.7(FRAS1):c.9183G>A (p.Ala3061=) rs139589570 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684 0.00460
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val) rs61731969 0.00459
NM_203486.3(DLL3):c.1143C>T (p.Ala381=) rs367573123 0.00458
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_182961.4(SYNE1):c.-391-9T>C rs138926036 0.00447
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_002635.4(SLC25A3):c.*102C>A rs74604883 0.00438
NM_021252.5(RAB18):c.-20C>T rs74127323 0.00438
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr) rs182196851 0.00436
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_003860.4(BANF1):c.204C>T (p.Gly68=) rs140057395 0.00435
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714 0.00431
NM_018319.4(TDP1):c.*598G>A rs34083314 0.00430
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) rs35734447 0.00426
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00426
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_153717.3(EVC):c.*2708G>A rs79112570 0.00424
NM_018319.4(TDP1):c.1317+11G>A rs36009827 0.00423
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) rs115144373 0.00421
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
NM_018451.5(CENPJ):c.3367-12T>C rs3742163 0.00421
NM_001013693.3(LDLRAD2):c.*2087C>T rs117182812 0.00420
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_000211.5(ITGB2):c.1026G>C (p.Val342=) rs142185460 0.00418
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg) rs113097479 0.00418
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) rs150314851 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025 0.00414
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055 0.00412
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367 0.00410
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_005708.5(GPC6):c.64G>A (p.Gly22Arg) rs150023233 0.00409
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_207361.6(FREM2):c.4730T>C (p.Ile1577Thr) rs114798977 0.00408
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_005529.7(HSPG2):c.10151-8C>T rs184079211 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_207361.6(FREM2):c.4726C>G (p.Pro1576Ala) rs116742938 0.00406
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_015102.5(NPHP4):c.279+11G>A rs113902159 0.00401
NM_022336.4(EDAR):c.1179C>T (p.Asp393=) rs115930248 0.00401
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_022336.4(EDAR):c.*254C>T rs148961371 0.00400
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) rs373081802 0.00398
NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) rs74946910 0.00397
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_014053.4(FLVCR1):c.*1317A>G rs145011972 0.00394
NM_016239.4(MYO15A):c.8339C>T (p.Thr2780Met) rs143826293 0.00394
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_022336.4(EDAR):c.813T>C (p.Asp271=) rs3749098 0.00390
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_004407.4(DMP1):c.*380C>T rs150349595 0.00387
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) rs115915650 0.00387
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_000208.4(INSR):c.*4270G>A rs74433419 0.00386
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile) rs116653247 0.00384
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997 0.00382
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_022098.4(XPNPEP3):c.*3955A>G rs138848856 0.00381
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_022098.4(XPNPEP3):c.*2611G>T rs144498602 0.00373
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr) rs2228168 0.00369
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_015102.5(NPHP4):c.1503+10G>A rs41307782 0.00367
NM_004153.4(ORC1):c.1584-4C>G rs114617697 0.00366
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_207361.6(FREM2):c.6925+7G>T rs79530106 0.00364
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_001048166.1(STIL):c.2384-13A>G rs140975915 0.00362
NM_025074.7(FRAS1):c.*258G>A rs114161007 0.00361
NM_198428.3(BBS9):c.*453C>G rs74748415 0.00361
NM_006846.4(SPINK5):c.1128C>T (p.Asn376=) rs78128189 0.00360
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_003573.2(LTBP4):c.79C>T (p.Leu27=) rs370696272 0.00357
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_139319.3(SLC17A8):c.*1295T>C rs139917587 0.00355
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_005708.5(GPC6):c.*2465A>G rs115005705 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_020632.3(ATP6V0A4):c.*73C>T rs78419825 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_153717.3(EVC):c.*2285C>G rs145479436 0.00352
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_139319.3(SLC17A8):c.*507G>A rs73376066 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_006846.4(SPINK5):c.2061G>A (p.Gln687=) rs36111383 0.00336
NM_015311.3(OBSL1):c.4067-12C>T rs144059707 0.00336
NM_000414.4(HSD17B4):c.-28C>T rs34353289 0.00334
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_014053.4(FLVCR1):c.*3032G>T rs76321605 0.00330
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_182961.4(SYNE1):c.17542-14A>G rs111686341 0.00330
NM_001039958.2(MESP2):c.717G>C (p.Gly239=) rs181559095 0.00329
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=) rs202182837 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810 0.00328
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) rs200777549 0.00327
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_148919.4(PSMB8):c.*140G>A rs115433903 0.00327
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_022336.4(EDAR):c.*2078T>C rs115501541 0.00324
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
NM_014053.4(FLVCR1):c.*2540T>C rs79275553 0.00322
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys) rs140139732 0.00319
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_033064.4(ATCAY):c.-390A>G rs140876148 0.00318
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_018451.5(CENPJ):c.*570T>C rs139596189 0.00313
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_153717.3(EVC):c.*1185A>G rs113728951 0.00308
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) rs61748627 0.00303
NM_145861.4(EDARADD):c.*417G>A rs189781826 0.00303
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_018249.6(CDK5RAP2):c.*264G>A rs181859642 0.00298
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_018389.5(SLC35C1):c.*1404G>A rs142012266 0.00295
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_178170.3(NEK8):c.2052G>A (p.Ser684=) rs145898152 0.00291
NM_006005.3(WFS1):c.*358T>C rs71530919 0.00289
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_004525.3(LRP2):c.2520A>G (p.Leu840=) rs114780253 0.00285
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=) rs191216887 0.00282
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_182548.4(LHFPL5):c.*423T>C rs9368890 0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_014321.4(ORC6):c.-47G>A rs144065502 0.00280
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_004525.3(LRP2):c.4924A>G (p.Ile1642Val) rs144737909 0.00275
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_000208.4(INSR):c.*3541C>T rs116953519 0.00271
NM_004937.3(CTNS):c.*1117G>A rs78833685 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile) rs2303708 0.00262
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_006005.3(WFS1):c.*69C>T rs71530916 0.00257
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550 0.00251
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_021252.5(RAB18):c.*2529G>A rs145293804 0.00250
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys) rs35315400 0.00249
NM_001145809.2(MYH14):c.5529C>T (p.Ser1843=) rs12610591 0.00248
NM_000019.4(ACAT1):c.-28T>A rs36216231 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_000123.4(ERCC5):c.2100C>A (p.Leu700=) rs2228959 0.00243
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_004560.4(ROR2):c.1686C>T (p.His562=) rs56048121 0.00232
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_001085429.2(TMEM213):c.-23G>A rs199654929 0.00229
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_001366722.1(GRIP1):c.*428C>T rs78619935 0.00225
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945 0.00224
NM_001145809.2(MYH14):c.*389C>G rs149455351 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_004525.3(LRP2):c.10647G>A (p.Pro3549=) rs17848184 0.00218
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_006208.3(ENPP1):c.*3879A>G rs144511581 0.00216
NM_006208.3(ENPP1):c.*4064T>C rs141760620 0.00214
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_021252.5(RAB18):c.*4131A>G rs540759797 0.00212
NM_001184.4(ATR):c.816A>G (p.Ser272=) rs34685245 0.00211
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_021252.5(RAB18):c.*3521C>T rs142174174 0.00208
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_018081.2(WRAP53):c.-206G>A rs17551150 0.00197
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_176824.3(BBS7):c.*250T>G rs80171619 0.00193
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088 0.00188
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=) rs150772386 0.00183
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00180
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) rs138044459 0.00178
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777 0.00173
NM_148919.4(PSMB8):c.192C>T (p.Asn64=) rs79482999 0.00173
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_001139.3(ALOX12B):c.1533-11C>G rs199760981 0.00167
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_005708.5(GPC6):c.*4547G>T rs190534645 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093 0.00145
NM_021252.5(RAB18):c.*3967T>C rs571495776 0.00145
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_001692.4(ATP6V1B1):c.*68C>T rs144725809 0.00141
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_033064.5(ATCAY):c.*1653G>T rs543950349 0.00140
NM_006208.3(ENPP1):c.*3594C>T rs140569538 0.00139
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256 0.00138
NM_001267550.2(TTN):c.48460+8C>T rs2288565 0.00137
NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly) rs143477571 0.00137
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364 0.00136
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp) rs148635969 0.00135
NM_002180.3(IGHMBP2):c.-28C>A rs117368938 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_002857.4(PEX19):c.*1471A>T rs2301299 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_004415.4(DSP):c.*39T>C rs145079869 0.00128
NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu) rs140544340 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000506.5(F2):c.1628G>T (p.Arg543Leu) rs143064939 0.00121
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_194248.3(OTOF):c.5418C>T (p.Ile1806=) rs116990436 0.00121
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_014780.4(CUL7):c.-300G>C rs80311039 0.00120
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_000211.5(ITGB2):c.2058C>G (p.Leu686=) rs117884186 0.00119
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_003619.4(PRSS12):c.645A>G (p.Gly215=) rs140470579 0.00116
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_031885.3(BBS2):c.-225C>T rs117744577 0.00111
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_004525.3(LRP2):c.5395-12C>G rs141206999 0.00108
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309 0.00108
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_182961.4(SYNE1):c.21523-8T>G rs187773880 0.00106
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004100.5(EYA4):c.-356T>C rs375432060 0.00104
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=) rs187029707 0.00102
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_006019.4(TCIRG1):c.1715C>T (p.Pro572Leu) rs115854062 0.00098
NM_025074.7(FRAS1):c.*503T>C rs3749484 0.00098
NM_020661.4(AICDA):c.*1089C>T rs141460280 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_000782.5(CYP24A1):c.*885T>G rs182056037 0.00095
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_004525.3(LRP2):c.12462-13C>T rs139211353 0.00094
NM_014780.5(CUL7):c.465A>T (p.Gly155=) rs150212051 0.00094
NM_022336.4(EDAR):c.849C>T (p.Ser283=) rs145796324 0.00093
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_001017420.3(ESCO2):c.*299T>C rs113728758 0.00091
NM_014780.5(CUL7):c.2803C>T (p.Leu935=) rs146309619 0.00091
NM_022336.4(EDAR):c.*1774G>A rs189855301 0.00091
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906 0.00086
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414 0.00085
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_014053.4(FLVCR1):c.*279T>C rs17019875 0.00084
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316 0.00082
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119 0.00081
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_022336.4(EDAR):c.-189T>C rs569682476 0.00078
NM_170784.3(MKKS):c.-618C>T rs146473397 0.00078
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_000506.5(F2):c.843C>T (p.Gly281=) rs147699032 0.00076
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787 0.00076
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_198428.3(BBS9):c.-429G>C rs184271281 0.00076
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_024685.4(BBS10):c.*632T>C rs78402495 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_207361.6(FREM2):c.4916G>A (p.Arg1639Lys) rs77886481 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=) rs74896368 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268 0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_033064.5(ATCAY):c.-241C>T rs376727951 0.00071
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln) rs139887350 0.00068
NM_001127671.2(LIFR):c.2578C>T (p.Arg860Trp) rs146205670 0.00066
NM_014780.5(CUL7):c.4323C>T (p.Gly1441=) rs148472550 0.00066
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp) rs146179360 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu) rs143808825 0.00064
NM_001139.3(ALOX12B):c.*66C>T rs74252603 0.00064
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=) rs145964630 0.00063
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) rs139249497 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_003332.4(TYROBP):c.68G>A (p.Arg23His) rs79272253 0.00061
NM_001017420.3(ESCO2):c.*34G>A rs182715200 0.00060
NM_020632.3(ATP6V0A4):c.1956G>A (p.Pro652=) rs141411124 0.00060
NM_144596.4(TTC8):c.330-15T>A rs187484893 0.00059
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071 0.00058
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) rs55716350 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_001145809.2(MYH14):c.-13C>T rs187670753 0.00057
NM_001692.4(ATP6V1B1):c.*80C>T rs117574187 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_014053.4(FLVCR1):c.*2443C>T rs117380165 0.00056
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_032575.3(GLIS2):c.*1176C>T rs150762287 0.00056
NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=) rs201588216 0.00055
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_001127671.2(LIFR):c.*1840C>G rs190209875 0.00053
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_014053.4(FLVCR1):c.*1920T>A rs115914498 0.00052
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_018972.4(GDAP1):c.*2463A>G rs9643686 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_004525.3(LRP2):c.9234C>T (p.His3078=) rs116975392 0.00051
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_014780.5(CUL7):c.4935C>T (p.Ser1645=) rs116910528 0.00049
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_000782.5(CYP24A1):c.908G>C (p.Cys303Ser) rs76747058 0.00046
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_032575.3(GLIS2):c.1350G>A (p.Ser450=) rs150464446 0.00046
NM_182961.4(SYNE1):c.7713-12C>T rs550804556 0.00046
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918 0.00039
NM_022336.4(EDAR):c.960C>T (p.Ala320=) rs10432616 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249 0.00039
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810 0.00039
NM_002473.6(MYH9):c.2517G>A (p.Gln839=) rs34498733 0.00038
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_018699.4(PRDM5):c.743+14G>A rs185567213 0.00038
NM_022098.4(XPNPEP3):c.-23C>T rs149610579 0.00038
NM_014780.4(CUL7):c.-269A>G rs377101095 0.00037
NM_001145809.2(MYH14):c.4753-5A>G rs118097099 0.00036
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861 0.00036
NM_006642.5(SDCCAG8):c.798T>C (p.His266=) rs74586093 0.00036
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_145861.4(EDARADD):c.*967A>G rs193138062 0.00036
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_004525.3(LRP2):c.3434C>T (p.Ser1145Leu) rs140061784 0.00034
NM_014780.5(CUL7):c.3416T>C (p.Ile1139Thr) rs77965460 0.00034
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=) rs146677360 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg) rs28364667 0.00030
NM_002473.6(MYH9):c.*906G>T rs192511111 0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=) rs184232860 0.00029
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935 0.00029
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val) rs150958775 0.00029
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) rs148818522 0.00029
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_018972.4(GDAP1):c.*1429A>G rs78545774 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665 0.00027
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) rs201887372 0.00027
NM_000211.5(ITGB2):c.*121C>T rs375146934 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_018965.4(TREM2):c.668C>T (p.Thr223Ile) rs138355759 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00025
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689 0.00024
NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) rs191578513 0.00024
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_002473.6(MYH9):c.18C>T (p.Ala6=) rs141055332 0.00021
NM_017791.3(FLVCR2):c.*910C>A rs549933844 0.00021
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_002180.3(IGHMBP2):c.366C>T (p.His122=) rs144401213 0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) rs11568545 0.00019
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178 0.00017
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_006208.3(ENPP1):c.*2737C>T rs545095322 0.00017
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_002700.3(POU4F3):c.792C>T (p.Ser264=) rs149975083 0.00016
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_145861.4(EDARADD):c.*1722C>T rs559506851 0.00015
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_017755.6(NSUN2):c.*563C>T rs374769713 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000317.3(PTS):c.372A>T (p.Val124=) rs139969809 0.00011
NM_001145809.2(MYH14):c.1133C>T (p.Ser378Leu) rs150806988 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 0.00011
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302 0.00010
NM_005982.4(SIX1):c.-121C>G rs375002099 0.00010
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_005708.5(GPC6):c.1272C>T (p.Asn424=) rs200389469 0.00009
NM_006118.4(HAX1):c.-52G>T rs578086387 0.00009
NM_018965.4(TREM2):c.*30G>A rs75272959 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_001145809.2(MYH14):c.2600G>A (p.Arg867His) rs547836952 0.00008
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_006892.4(DNMT3B):c.336C>T (p.Ser112=) rs199763590 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_032193.4(RNASEH2C):c.*1621A>G rs373799308 0.00007
NM_176824.3(BBS7):c.*932T>G rs3217755 0.00007
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_014321.4(ORC6):c.*217C>T rs143138864 0.00006
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006
NM_021252.5(RAB18):c.*448G>A rs563981728 0.00006
NM_022098.4(XPNPEP3):c.*1452A>G rs553717950 0.00006
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_153717.3(EVC):c.*2466G>A rs572400824 0.00006
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601 0.00005
NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=) rs371903094 0.00005
NM_014053.4(FLVCR1):c.*3264T>C rs374214375 0.00005
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301 0.00005
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_001098484.3(SLC4A4):c.*1945A>T rs375540927 0.00004
NM_001098484.3(SLC4A4):c.*2346T>C rs369784676 0.00004
NM_001098484.3(SLC4A4):c.*628T>G rs368650087 0.00004
NM_001098484.3(SLC4A4):c.2941T>C (p.Leu981=) rs147261946 0.00004
NM_001145809.2(MYH14):c.*302G>A rs544178350 0.00004
NM_001374623.1(PNPLA1):c.1595+340A>G rs375247045 0.00004
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_006005.3(WFS1):c.315+11C>T rs202232817 0.00004
NM_006208.3(ENPP1):c.*1559G>T rs551333973 0.00004
NM_006208.3(ENPP1):c.*4571G>C rs574559068 0.00004
NM_006208.3(ENPP1):c.*4641A>G rs545401301 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015910.7(WDPCP):c.*323A>G rs369149310 0.00004
NM_022336.4(EDAR):c.-18-14C>T rs532111960 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_153717.3(EVC):c.*1648T>C rs371788560 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001085429.2(TMEM213):c.-55G>A rs368646400 0.00003
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001254.4(CDC6):c.1512A>G (p.Ser504=) rs4135031 0.00003
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 0.00003
NM_014425.5(INVS):c.*297A>G rs190277417 0.00003
NM_015910.7(WDPCP):c.76-15T>A rs200557033 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=) rs376140250 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448 0.00002
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679 0.00002
NM_004086.3(COCH):c.630-9T>C rs368182881 0.00002
NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) rs530918606 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_015294.6(TRIM37):c.-236A>G rs371575547 0.00002
NM_022336.4(EDAR):c.*1678C>T rs565595816 0.00002
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met) rs201953675 0.00002
NM_032193.4(RNASEH2C):c.*572C>T rs200332583 0.00002
NM_207361.6(FREM2):c.6826G>A (p.Val2276Met) rs555028352 0.00002
NM_000163.5(GHR):c.*2294A>G rs368826175 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_001127453.2(GSDME):c.612C>T (p.Asp204=) rs551846110 0.00001
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_004086.3(COCH):c.*39G>T rs555882283 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr) rs574215585 0.00001
NM_004525.3(LRP2):c.2636G>C (p.Trp879Ser) rs199581227 0.00001
NM_005219.5(DIAPH1):c.*1607C>T rs527786719 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_014321.4(ORC6):c.*479G>A rs533502054 0.00001
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_207361.6(FREM2):c.9184G>T (p.Ala3062Ser) rs140456319 0.00001
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.779-13_779-12del rs67309103
NM_000082.4(ERCC8):c.*583T>C rs4647158
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000163.5(GHR):c.*1498TTG[6] rs398064766
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000208.4(INSR):c.*1416del rs3833238
NM_000208.4(INSR):c.*288del rs35434645
NM_000208.4(INSR):c.*930dup rs34045095
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.*171G>C rs6570
NM_000211.5(ITGB2):c.*370G>T rs117989670
NM_000243.3(MEFV):c.*743T>C rs170387
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000320.3(QDPR):c.*682A>G rs699459
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_000370.3(TTPA):c.*576_*578del rs10543235
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877CA[1]
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-154G>A
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000506.5(F2):c.423-7G>C rs2070852
NM_000543.5(SMPD1):c.*294G>C rs12278115
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308AAG[2] rs398059782
NM_000782.5(CYP24A1):c.-154T>G rs75209626
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_001005207.3(TRIM37):c.-449dupC rs35129177
NM_001017420.3(ESCO2):c.*130G>A rs62498042
NM_001017420.3(ESCO2):c.*481del rs111395487
NM_001023570.4(IQCB1):c.*197G>C rs1135750
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001038603.3(MARVELD2):c.1147-9T>G rs299099
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001042472.3(ABHD12):c.*321G>T rs534140287
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC rs3833297
NM_001042545.2(LTBP4):c.*86C>T rs10424186
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001048166.1(STIL):c.*577G>A rs11211487
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001080476.3(GRXCR1):c.25G>A (p.Glu9Lys) rs78136490
NM_001080476.3(GRXCR1):c.627+8A>C rs10213360
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001083961.2(WDR62):c.1233+11C>A rs116050630
NM_001083961.2(WDR62):c.1233+13C>T rs76130844
NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val) rs75230537
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001098484.3(SLC4A4):c.*411G>C rs1453452
NM_001098484.3(SLC4A4):c.*989T>A rs34921070
NM_001099287.2(NIPAL4):c.*804T>A rs80315032
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys) rs151328414
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) rs754554
NM_001127649.3(PEX26):c.*1283C>T rs73876563
NM_001127649.3(PEX26):c.*1532_*1535dup rs361782
NM_001127649.3(PEX26):c.*1661_*1662insACTC rs361571
NM_001127649.3(PEX26):c.*1859A>C rs146739242
NM_001127649.3(PEX26):c.*829A>G rs362057
NM_001127649.3(PEX26):c.*944C>A rs78412274
NM_001127671.2(LIFR):c.*3330C>A rs148827994
NM_001127671.2(LIFR):c.*3639_*3640del rs796517933
NM_001127671.2(LIFR):c.*5072dup rs34579169
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001134793.2(HYLS1):c.-26+27_-26+28dup rs11382127
NM_001134793.2(HYLS1):c.-66_-65dup rs60408033
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.771-20dup rs34600530
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001351132.2(PEX5):c.*1134dup rs11448434
NM_001351132.2(PEX5):c.*628G>A rs12316371
NM_001351132.2(PEX5):c.*628G>C rs12316371
NM_001351132.2(PEX5):c.-20C>G rs12227917
NM_001366722.1(GRIP1):c.*1261del rs35499444
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.2(ZNF469):c.*618T>G rs3859020
NM_001367624.2(ZNF469):c.*870del rs35684712
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala) rs886038612
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu) rs886038614
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001379180.1(ESRRB):c.*2574C>A rs8017684
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002241.5(KCNJ10):c.*1764T>G rs2486253
NM_002473.6(MYH9):c.5483+4C>G rs56327920
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002617.4(PEX10):c.*352G>A rs115735911
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_003332.4(TYROBP):c.123C>G (p.Gly41=) rs111477177
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003630.3(PEX3):c.-197T>C rs184934783
NM_003839.4(TNFRSF11A):c.*1269G>C rs115023470
NM_003839.4(TNFRSF11A):c.*634C>G rs7232657
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004100.5(EYA4):c.*2968T>A rs181492427
NM_004100.5(EYA4):c.-244C>G rs112173873
NM_004100.5(EYA4):c.-326C>G rs117602794
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004525.3(LRP2):c.*910dup rs11411235
NM_004525.3(LRP2):c.2934G>A (p.Thr978=) rs17848143
NM_004525.3(LRP2):c.3667+13T>A rs116697309
NM_004525.3(LRP2):c.402C>A (p.Pro134=) rs34104660
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) rs2228169
NM_004525.3(LRP2):c.775G>C (p.Gly259Arg) rs34693334
NM_004813.4(PEX16):c.*376G>C rs143868125
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_004937.3(CTNS):c.*1128G>A rs115643745
NM_004937.3(CTNS):c.*1957del rs397856854
NM_004999.4(MYO6):c.*3296G>T rs7741414
NM_004999.4(MYO6):c.*4283A>G rs7746476
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005708.5(GPC6):c.*1297C>G rs1951797
NM_005708.5(GPC6):c.*1297C>T rs1951797
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1236G>T rs11154649
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.*772A>T rs34608785
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006892.4(DNMT3B):c.*1318del rs398088406
NM_006892.4(DNMT3B):c.1760-8C>G rs2424926
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_012188.5(FOXI1):c.*119C>A rs6873124
NM_012233.3(RAB3GAP1):c.*1208del rs200869351
NM_012233.3(RAB3GAP1):c.*261dup rs143703110
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) rs77535003
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_014053.4(FLVCR1):c.*1880TAAA[7] rs141272551
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*3130_*3131insAATT rs10655434
NM_014053.4(FLVCR1):c.*3482C>G rs12142813
NM_014780.5(CUL7):c.4295-14C>A rs144154816
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015311.3(OBSL1):c.-208G>C rs567328066
NM_015311.3(OBSL1):c.-43del rs747020402
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.4067-11G>T rs1983211
NM_015404.4(WHRN):c.-314C>T rs57258861
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016239.4(MYO15A):c.8088+5C>G rs9916193
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_017875.4(SLC25A38):c.*212T>G rs72867427
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*608del rs397897279
NM_018389.5(SLC35C1):c.*1636G>A rs79173599
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305AAG[1] rs796638364
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018699.4(PRDM5):c.1031-6dup rs35363618
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020631.5(PLEKHG5):c.*1158G>C rs2986754
NM_020631.5(PLEKHG5):c.*697C>T rs3176900
NM_020661.4(AICDA):c.*38T>C rs115089086
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_021628.3(ALOXE3):c.*391C>A rs80115129
NM_021628.3(ALOXE3):c.1305+15del rs58194728
NM_022098.4(XPNPEP3):c.*2881C>G rs9623283
NM_022098.4(XPNPEP3):c.1055+15G>A rs5995965
NM_022336.4(EDAR):c.*2141T>C rs566201941
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_025074.7(FRAS1):c.*2824_*2825insTTTT rs397724155
NM_025074.7(FRAS1):c.*518dup rs397752464
NM_025074.7(FRAS1):c.*731C>G rs116483248
NM_025074.7(FRAS1):c.*808C>T rs59820455
NM_025074.7(FRAS1):c.-257G>T rs78363185
NM_025074.7(FRAS1):c.10648+25del rs397994139
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) rs345513
NM_025074.7(FRAS1):c.2313G>T (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.380C>G (p.Pro127Arg) rs147709711
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.5(BBS2):c.-137C>G rs77438708
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033064.5(ATCAY):c.*1540C>A rs140917952
NM_033064.5(ATCAY):c.*193del rs796133913
NM_033064.5(ATCAY):c.*2497C>T rs143923838
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_138387.4(G6PC3):c.*151G>C rs1046770
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_139343.3(BIN1):c.*82C>A rs111649895
NM_145861.4(EDARADD):c.*1601C>A rs3916983
NM_145861.4(EDARADD):c.*1601C>G rs3916983
NM_145861.4(EDARADD):c.*956C>T rs201986008
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153676.4(USH1C):c.*419_*420insAACA rs10626485
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_173076.3(ABCA12):c.*1052_*1055dup rs71399158
NM_173483.4(CYP4F22):c.939+15_939+16del rs537649124
NM_174878.3(CLRN1):c.*277GT[13] rs34027634
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_176824.3(BBS7):c.*729del rs3217754
NM_182548.4(LHFPL5):c.*560G>C rs9462125
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337
NM_206933.4(USH2A):c.4627+48A>T rs74874838
NM_207361.6(FREM2):c.*1467G>A rs9548523
NM_207361.6(FREM2):c.*2140C>G rs7324632
NM_207361.6(FREM2):c.*5598T>G rs1945506
NM_207361.6(FREM2):c.*5627del rs5802961
NM_207361.6(FREM2):c.176G>A (p.Gly59Asp) rs115327344
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_207361.6(FREM2):c.6196C>T (p.Arg2066Cys) rs9548505
NM_207361.6(FREM2):c.9357G>C (p.Thr3119=) rs41306664

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