ClinVar Miner

List of variants reported as likely benign by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1517
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.*560_*561insAT rs56722042 0.24273
NM_005188.4(CBL):c.*559_*560insC rs3833768 0.24253
NM_000064.4(C3):c.3811-73C>G rs2241394 0.10517
NM_001375808.2(LPIN2):c.*501T>C rs35176958 0.05856
NM_002834.5(PTPN11):c.*1006del rs146940557 0.05739
NM_001278116.2(L1CAM):c.*383C>T rs41311708 0.04318
NM_004998.4(MYO1E):c.*14C>G rs3751538 0.03540
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg) rs36012476 0.03290
NM_032575.3(GLIS2):c.*1203C>G rs116981725 0.03086
NM_006459.4(ERLIN1):c.*213A>G rs3802528 0.02723
NM_020435.4(GJC2):c.*95G>A rs1052534 0.02481
NM_024876.4(COQ8B):c.648C>T (p.Ala216=) rs4803357 0.02373
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys) rs11538384 0.02355
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
NM_000537.4(REN):c.649G>A (p.Gly217Arg) rs11571117 0.01814
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=) rs34852231 0.01623
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_015346.4(ZFYVE26):c.6987-3C>T rs76728509 0.01610
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515 0.01467
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_012120.3(CD2AP):c.1632+8G>T rs77917916 0.01414
NM_003647.3(DGKE):c.59G>A (p.Gly20Glu) rs73994915 0.01411
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_001375808.2(LPIN2):c.*99C>T rs143728428 0.01403
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152 0.01347
NM_199242.3(UNC13D):c.3252T>C (p.His1084=) rs61753922 0.01313
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_004621.6(TRPC6):c.-10C>A rs191383391 0.01276
NM_001287.6(CLCN7):c.1671C>T (p.Gly557=) rs115310976 0.01268
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_012120.3(CD2AP):c.1743T>A (p.Asn581Lys) rs34069459 0.01173
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067 0.01099
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=) rs74459402 0.01097
NM_006182.4(DDR2):c.83-4C>T rs76156815 0.01091
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604 0.01071
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.01066
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_000537.4(REN):c.492+3A>G rs5706 0.01062
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_022167.4(XYLT2):c.166G>A (p.Asp56Asn) rs113835371 0.01034
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) rs369603991 0.01028
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_024876.4(COQ8B):c.1119C>T (p.Phe373=) rs56056214 0.01001
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) rs61751496 0.00975
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421 0.00956
NM_004998.4(MYO1E):c.643-4C>T rs73422973 0.00956
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506 0.00953
NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser) rs139271412 0.00952
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_001242.5(CD27):c.30C>T (p.Cys10=) rs34540052 0.00937
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_001199138.2(NLRC4):c.-48A>G rs115661114 0.00915
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 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_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672 0.00895
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln) rs149502087 0.00876
NM_012120.3(CD2AP):c.696C>T (p.Ser232=) rs140627775 0.00876
NM_004924.6(ACTN4):c.369C>T (p.Gly123=) rs140381330 0.00875
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_014844.5(TECPR2):c.952-5G>A rs55716270 0.00869
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_001244008.2(KIF1A):c.184-10C>T rs7594776 0.00865
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=) rs143852982 0.00854
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met) rs139066376 0.00852
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=) rs145744152 0.00846
NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg) rs116754410 0.00844
NM_001083116.3(PRF1):c.702G>A (p.Ser234=) rs138508223 0.00843
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_000095.3(COMP):c.1956C>T (p.Asn652=) rs10421797 0.00834
NM_004998.4(MYO1E):c.1440G>A (p.Thr480=) rs117265950 0.00834
NM_022167.4(XYLT2):c.1089-9T>C rs193124050 0.00832
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) rs760502262 0.00823
NM_001366385.1(CARD14):c.*46T>C rs75486216 0.00820
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met) rs140447165 0.00815
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg) rs35401786 0.00803
NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn) rs34330210 0.00799
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) rs146851485 0.00794
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937 0.00775
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454 0.00766
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887 0.00764
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) rs138771545 0.00751
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg) rs140540720 0.00750
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00745
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322 0.00741
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=) rs137930753 0.00731
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842 0.00729
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_001457.4(FLNB):c.2907G>A (p.Arg969=) rs138449267 0.00724
NM_005619.5(RTN2):c.1593C>T (p.Ala531=) rs148630935 0.00720
NM_001358921.2(COQ2):c.189G>T (p.Val63=) rs368507578 0.00719
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641 0.00719
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_005619.5(RTN2):c.792C>A (p.Phe264Leu) rs61745812 0.00699
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_144687.4(NLRP12):c.2754G>C (p.Leu918=) rs61741347 0.00692
NM_001366385.1(CARD14):c.2409G>A (p.Thr803=) rs115102551 0.00689
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380 0.00687
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498 0.00686
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380 0.00682
NM_012275.3(IL36RN):c.369G>C (p.Thr123=) rs28938778 0.00682
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_004924.6(ACTN4):c.1998G>A (p.Gln666=) rs145474119 0.00666
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) rs11555797 0.00657
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu) rs3729744 0.00642
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529 0.00639
NM_001853.4(COL9A3):c.1476C>T (p.Pro492=) rs76559905 0.00634
NM_001852.4(COL9A2):c.1150A>C (p.Met384Leu) rs145327896 0.00631
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly) rs184704920 0.00624
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_001201550.3(CFHR4):c.103T>C (p.Tyr35His) rs138792300 0.00616
NM_020944.3(GBA2):c.1037C>T (p.Thr346Met) rs34353044 0.00613
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00602
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=) rs112581362 0.00587
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_005666.4(CFHR2):c.325A>G (p.Thr109Ala) rs145405649 0.00571
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_014855.3(AP5Z1):c.-1G>C rs146143723 0.00560
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681 0.00543
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_001365276.2(TNXB):c.10018G>A (p.Gly3340Ser) rs61737606 0.00542
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193 0.00532
NM_001365276.2(TNXB):c.12378C>T (p.Asp4126=) rs11755562 0.00531
NM_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_022167.4(XYLT2):c.359G>A (p.Arg120His) rs145954495 0.00528
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_006767.4(LZTR1):c.201-8C>T rs183476594 0.00520
NM_001365276.2(TNXB):c.9072C>T (p.His3024=) rs61729739 0.00518
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg) rs143198225 0.00510
NM_001282225.2(ADA2):c.511C>T (p.Arg171Trp) rs115986203 0.00508
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_001282225.2(ADA2):c.660C>T (p.Tyr220=) rs2231487 0.00500
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038 0.00495
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000064.4(C3):c.3970-8C>T rs11569540 0.00476
NM_000081.4(LYST):c.-5C>T rs141317482 0.00475
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_015346.4(ZFYVE26):c.6588+7C>T rs186040735 0.00471
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_004733.4(SLC33A1):c.1482+7A>G rs149522913 0.00458
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445 0.00458
NM_001365276.2(TNXB):c.5746A>G (p.Thr1916Ala) rs17207916 0.00455
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_004998.4(MYO1E):c.1449G>A (p.Gln483=) rs144637775 0.00452
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_003118.4(SPARC):c.733G>A (p.Gly245Arg) rs41290587 0.00445
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln) rs115582620 0.00439
NM_173842.3(IL1RN):c.465C>T (p.Pro155=) rs2232355 0.00435
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775 0.00428
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) rs139806812 0.00425
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=) rs192479136 0.00424
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_001366385.1(CARD14):c.2822G>A (p.Arg941Gln) rs74000616 0.00421
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=) rs34761059 0.00420
NM_015214.3(DDHD2):c.912T>A (p.Ile304=) rs139393309 0.00410
NM_152415.3(VPS37A):c.24C>T (p.Thr8=) rs146098391 0.00409
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828 0.00408
NM_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00406
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser) rs35240811 0.00405
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_004646.4(NPHS1):c.1170+8G>A rs140808195 0.00400
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_004646.4(NPHS1):c.1926A>G (p.Val642=) rs114728208 0.00397
NM_005546.4(ITK):c.578G>A (p.Arg193Gln) rs17054374 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_004646.4(NPHS1):c.1110T>C (p.Val370=) rs116459838 0.00394
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_001083116.3(PRF1):c.444C>T (p.Ala148=) rs61737403 0.00389
NM_001370466.1(NOD2):c.974A>G (p.His325Arg) rs5743272 0.00389
NM_004646.4(NPHS1):c.840+6G>A rs369975773 0.00388
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) rs72700618 0.00388
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_001366385.1(CARD14):c.2859G>A (p.Ala953=) rs139969019 0.00386
NM_006767.4(LZTR1):c.2007C>T (p.Ile669=) rs138664443 0.00386
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln) rs186993311 0.00386
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835 0.00379
NM_003361.4(UMOD):c.1353C>G (p.Gly451=) rs111904030 0.00378
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) rs145406397 0.00373
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_007215.4(POLG2):c.397C>T (p.His133Tyr) rs112984118 0.00371
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_022167.4(XYLT2):c.1619C>T (p.Thr540Ile) rs151294421 0.00366
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) rs543846859 0.00365
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=) rs113401495 0.00364
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe) rs116185336 0.00363
NM_002156.5(HSPD1):c.1216-9C>T rs189395138 0.00361
NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys) rs141644282 0.00358
NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp) rs150361106 0.00358
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723 0.00357
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) rs182269913 0.00354
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala) rs35413645 0.00350
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=) rs144007962 0.00349
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_003978.5(PSTPIP1):c.*38T>C rs201535027 0.00346
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=) rs75915098 0.00345
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=) rs77989135 0.00333
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736 0.00324
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497 0.00319
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_014425.5(INVS):c.1284T>C (p.His428=) rs77465715 0.00312
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile) rs143223086 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly) rs148664622 0.00300
NM_018699.4(PRDM5):c.1632G>A (p.Pro544=) rs116026637 0.00299
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_001083116.3(PRF1):c.403G>A (p.Val135Met) rs12263572 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992 0.00291
NM_002335.4(LRP5):c.16C>A (p.Pro6Thr) rs771718186 0.00289
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) rs147997412 0.00288
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724 0.00287
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=) rs147784739 0.00286
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_001189.4(NKX3-2):c.235A>T (p.Thr79Ser) rs200167000 0.00283
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_020800.3(IFT80):c.1076+9C>G rs139408398 0.00283
NM_024989.4(PGAP1):c.906T>C (p.Leu302=) rs138525017 0.00283
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917 0.00278
NM_006612.6(KIF1C):c.153C>T (p.Thr51=) rs147583562 0.00277
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met) rs148552744 0.00276
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu) rs149027682 0.00270
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala) rs149454830 0.00267
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_001365276.2(TNXB):c.10368C>T (p.Thr3456=) rs116701346 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=) rs200639109 0.00257
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser) rs148536791 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) rs17687375 0.00252
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) rs35512910 0.00250
NM_021939.4(FKBP10):c.1734C>T (p.Val578=) rs115239900 0.00250
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00246
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_001375808.2(LPIN2):c.120T>C (p.Asp40=) rs143261167 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_000064.4(C3):c.4631-9C>T rs116302413 0.00242
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=) rs61746872 0.00237
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344 0.00237
NM_183235.3(RAB27A):c.468-3C>T rs113895512 0.00237
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_015346.4(ZFYVE26):c.7417-5G>C rs201771769 0.00236
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) rs150026441 0.00235
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055 0.00232
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00230
NM_080680.3(COL11A2):c.*4C>T rs186720023 0.00230
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_001367624.2(ZNF469):c.3773C>A (p.Ala1258Glu) rs141255631 0.00228
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000537.4(REN):c.22C>G (p.Pro8Ala) rs61746500 0.00222
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_012275.3(IL36RN):c.6C>T (p.Val2=) rs28938771 0.00221
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001365276.2(TNXB):c.909C>G (p.Gly303=) rs111244635 0.00214
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427 0.00214
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile) rs142676629 0.00214
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=) rs140783695 0.00209
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln) rs141225452 0.00204
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_015346.4(ZFYVE26):c.1933A>G (p.Met645Val) rs77129887 0.00201
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_005032.7(PLS3):c.925A>G (p.Ile309Val) rs140968059 0.00200
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn) rs61751498 0.00200
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=) rs148632046 0.00195
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) rs3736229 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_001366385.1(CARD14):c.1806G>A (p.Ser602=) rs113127952 0.00193
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302 0.00192
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419 0.00191
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533 0.00190
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_144687.4(NLRP12):c.1352G>A (p.Arg451His) rs76085152 0.00188
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_004722.4(AP4M1):c.*23C>T rs189536527 0.00184
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_001710.6(CFB):c.978A>C (p.Glu326Asp) rs140166479 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_001365276.2(TNXB):c.4444G>A (p.Val1482Met) rs61740336 0.00179
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_148919.4(PSMB8):c.732C>T (p.Gly244=) rs78909544 0.00175
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) rs148034796 0.00173
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_001853.4(COL9A3):c.1449C>T (p.Asn483=) rs151056612 0.00172
NM_001287.6(CLCN7):c.1354-7C>T rs41286691 0.00170
NM_001367624.2(ZNF469):c.1953G>A (p.Pro651=) rs564837770 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001366385.1(CARD14):c.526G>C (p.Asp176His) rs144475004 0.00168
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly) rs149276487 0.00166
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601 0.00165
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_003118.4(SPARC):c.187G>A (p.Glu63Lys) rs113617771 0.00165
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_001365276.2(TNXB):c.7633C>T (p.Pro2545Ser) rs201415015 0.00162
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) rs118037269 0.00157
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=) rs139974816 0.00155
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_198282.4(STING1):c.762G>A (p.Ala254=) rs11554777 0.00153
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro) rs200545714 0.00152
NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=) rs138906273 0.00150
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_001353214.3(DYM):c.620+4T>G rs201652921 0.00148
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) rs143268242 0.00148
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu) rs34577313 0.00146
NM_001367624.2(ZNF469):c.1913C>T (p.Pro638Leu) rs572690908 0.00146
NM_002156.5(HSPD1):c.700+8C>T rs185384719 0.00143
NM_014844.5(TECPR2):c.4081+8C>A rs199845217 0.00143
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=) rs140769141 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu) rs148477072 0.00141
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) rs149070858 0.00140
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr) rs142409885 0.00139
NM_001365276.2(TNXB):c.10046-4C>T rs41267134 0.00138
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980 0.00136
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=) rs139314486 0.00134
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_144687.4(NLRP12):c.3004G>A (p.Asp1002Asn) rs144746100 0.00131
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr) rs139163400 0.00130
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901 0.00128
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln) rs202113575 0.00125
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly) rs147896952 0.00118
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=) rs138980184 0.00118
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_006612.6(KIF1C):c.885G>A (p.Ser295=) rs148489739 0.00117
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys) rs76326086 0.00117
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_015346.4(ZFYVE26):c.5799C>T (p.Ser1933=) rs145858625 0.00115
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613 0.00114
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510 0.00113
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) rs141002044 0.00113
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669 0.00113
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=) rs147494935 0.00113
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=) rs370926189 0.00112
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_002335.4(LRP5):c.1221G>A (p.Ala407=) rs150970251 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=) rs200243306 0.00105
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00104
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639 0.00104
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=) rs376379111 0.00103
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154 0.00103
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00103
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_016341.4(PLCE1):c.513G>A (p.Val171=) rs61749239 0.00101
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_006129.5(BMP1):c.941G>A (p.Arg314His) rs538263166 0.00100
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys) rs41309046 0.00090
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=) rs199903577 0.00089
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_001365276.2(TNXB):c.7866C>T (p.Thr2622=) rs4711284 0.00086
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_002381.5(MATN3):c.945C>T (p.His315=) rs77146641 0.00086
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser) rs148983337 0.00086
NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=) rs149326648 0.00085
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_003361.4(UMOD):c.425G>A (p.Arg142Gln) rs199835347 0.00083
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_000095.3(COMP):c.2152C>A (p.Arg718=) rs28936368 0.00081
NM_022167.4(XYLT2):c.2391C>T (p.Ala797=) rs141527159 0.00081
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_001025295.3(IFITM5):c.34G>T (p.Ala12Ser) rs568880098 0.00079
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_021830.5(TWNK):c.1596C>T (p.Ile532=) rs146690237 0.00078
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu) rs149390911 0.00076
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_000081.4(LYST):c.7229+3A>G rs529306869 0.00074
NM_001199138.2(NLRC4):c.1248G>A (p.Val416=) rs377140938 0.00074
NM_148919.4(PSMB8):c.*8G>A rs376750959 0.00074
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00073
NM_173842.3(IL1RN):c.237T>C (p.His79=) rs140088036 0.00073
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_001367624.2(ZNF469):c.4599A>C (p.Thr1533=) rs142246629 0.00070
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val) rs200070902 0.00070
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=) rs201290189 0.00069
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) rs573582117 0.00068
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471 0.00066
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) rs138139611 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_001366385.1(CARD14):c.960G>A (p.Glu320=) rs144207494 0.00065
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met) rs200280538 0.00065
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=) rs117336150 0.00065
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=) rs138895639 0.00064
NM_001367624.2(ZNF469):c.1406G>C (p.Ser469Thr) rs770926082 0.00063
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342 0.00063
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001025295.3(IFITM5):c.87G>A (p.Pro29=) rs372443030 0.00061
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=) rs2242569 0.00061
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) rs147665692 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) rs184878358 0.00060
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_001365276.2(TNXB):c.7492+8G>A rs191329297 0.00059
NM_002156.5(HSPD1):c.18A>G (p.Thr6=) rs79630442 0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_001365276.2(TNXB):c.6972G>A (p.Thr2324=) rs202133293 0.00058
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00058
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr) rs534573391 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=) rs141043192 0.00057
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=) rs147980356 0.00056
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971 0.00056
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00055
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_001065.4(TNFRSF1A):c.769-3C>T rs199743143 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu) rs548721041 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=) rs187442951 0.00053
NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys) rs181699780 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00052
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=) rs34778731 0.00051
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001370466.1(NOD2):c.486G>A (p.Thr162=) rs144887729 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_015884.4(MBTPS2):c.1237C>T (p.His413Tyr) rs200298161 0.00051
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) rs375100066 0.00051
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 0.00050
NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys) rs202211608 0.00050
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) rs775513309 0.00050
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg) rs201424543 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg) rs141698427 0.00048
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015 0.00048
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418 0.00048
NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=) rs190855421 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001853.4(COL9A3):c.873C>T (p.Pro291=) rs201808719 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_002335.4(LRP5):c.2829G>A (p.Pro943=) rs201018263 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala) rs139107571 0.00046
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_015884.4(MBTPS2):c.408G>A (p.Ser136=) rs148895141 0.00045
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_001244008.2(KIF1A):c.1341+7G>T rs184947396 0.00044
NM_000138.5(FBN1):c.645A>C (p.Arg215=) rs200062771 0.00043
NM_001370466.1(NOD2):c.1464G>T (p.Leu488=) rs553575063 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_004621.6(TRPC6):c.837C>T (p.Gly279=) rs147530677 0.00042
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_016341.4(PLCE1):c.2214+7C>T rs201418194 0.00042
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser) rs145446512 0.00041
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_005430.4(WNT1):c.*9G>A rs201599168 0.00041
NM_015915.5(ATL1):c.408T>C (p.Asp136=) rs76375909 0.00041
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser) rs147312612 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) rs146906190 0.00040
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_198282.4(STING1):c.760-9C>A rs200232916 0.00039
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_001235.5(SERPINH1):c.188C>T (p.Ala63Val) rs576480194 0.00038
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=) rs144469697 0.00038
NM_003238.6(TGFB2):c.588C>T (p.Gly196=) rs192335285 0.00038
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg) rs201047107 0.00037
NM_001972.4(ELANE):c.654C>T (p.Phe218=) rs148492780 0.00037
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330 0.00037
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001366385.1(CARD14):c.1659C>T (p.Ser553=) rs139274935 0.00036
NM_015214.3(DDHD2):c.864A>C (p.Ile288=) rs148904419 0.00036
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001366385.1(CARD14):c.1385C>T (p.Thr462Met) rs368239982 0.00035
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) rs151150961 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=) rs145777568 0.00035
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000316.3(PTH1R):c.75+9C>T rs200710310 0.00034
NM_001999.4(FBN2):c.3087C>T (p.Val1029=) rs777392642 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=) rs146493523 0.00033
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=) rs375617316 0.00033
NM_000081.4(LYST):c.4863-4G>A rs201382097 0.00032
NM_001353214.3(DYM):c.321G>A (p.Leu107=) rs16950519 0.00032
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.1876-10C>T rs370308401 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 0.00031
NM_001365276.2(TNXB):c.7995G>A (p.Gly2665=) rs374115665 0.00031
NM_001366385.1(CARD14):c.*6C>T rs200373502 0.00031
NM_001366385.1(CARD14):c.1356+4C>T rs373428751 0.00031
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) rs371897217 0.00031
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr) rs185185243 0.00031
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=) rs138949427 0.00030
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_144599.5(NIPA1):c.21A>G (p.Ala7=) rs749414711 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) rs145307365 0.00029
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001282225.2(ADA2):c.689G>A (p.Arg230Gln) rs186116639 0.00029
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) rs148818522 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=) rs201407516 0.00029
NM_015214.3(DDHD2):c.558G>A (p.Thr186=) rs149994413 0.00029
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_001972.4(ELANE):c.16C>A (p.Arg6=) rs182347433 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_020944.3(GBA2):c.1395G>A (p.Pro465=) rs149501146 0.00027
NM_144687.4(NLRP12):c.291T>C (p.Asp97=) rs201046901 0.00027
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr) rs200029309 0.00026
NM_001366385.1(CARD14):c.2403C>T (p.Ser801=) rs189286068 0.00026
NM_001366385.1(CARD14):c.27C>T (p.Ser9=) rs9895931 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_022489.4(INF2):c.1929C>T (p.Ile643=) rs756712490 0.00026
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777 0.00026
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00026
NM_001366385.1(CARD14):c.2190C>T (p.Ala730=) rs146968151 0.00025
NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys) rs112478200 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_002524.5(NRAS):c.112-8A>G rs9724626 0.00025
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000 0.00025
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00025
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00024
NM_001365276.2(TNXB):c.2485G>A (p.Gly829Ser) rs147172260 0.00024
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530 0.00024
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930 0.00023
NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=) rs146516795 0.00023
NM_001365276.2(TNXB):c.9040T>C (p.Cys3014Arg) rs2857007 0.00023
NM_001366385.1(CARD14):c.1852-8G>A rs544120287 0.00023
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_002335.4(LRP5):c.4156G>A (p.Ala1386Thr) rs547456980 0.00023
NM_007215.4(POLG2):c.457C>G (p.Leu153Val) rs149446102 0.00023
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg) rs141830680 0.00023
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_002296.4(LBR):c.899A>G (p.Tyr300Cys) rs2230422 0.00022
NM_000047.3(ARSL):c.102C>T (p.Ser34=) rs151070930 0.00021
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001365276.2(TNXB):c.2366G>A (p.Gly789Glu) rs367834992 0.00021
NM_001365276.2(TNXB):c.7906A>G (p.Met2636Val) rs369180703 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001457.4(FLNB):c.1203C>T (p.Thr401=) rs148507053 0.00021
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_004924.6(ACTN4):c.2010+9C>T rs202218981 0.00021
NM_152415.3(VPS37A):c.418C>T (p.Leu140=) rs143689645 0.00021
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=) rs139168020 0.00020
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_001199138.2(NLRC4):c.1380G>A (p.Thr460=) rs151186164 0.00019
NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile) rs372586928 0.00019
NM_001366385.1(CARD14):c.2807+10C>T rs368700533 0.00019
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys) rs528085780 0.00019
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=) rs199475914 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys) rs200340910 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_198282.4(STING1):c.575G>T (p.Gly192Val) rs201096097 0.00019
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=) rs370913170 0.00018
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003664.5(AP3B1):c.402C>T (p.Ser134=) rs144761256 0.00018
NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val) rs199758976 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_130468.4(CHST14):c.471G>A (p.Val157=) rs200761477 0.00018
NM_198282.4(STING1):c.758G>A (p.Arg253Gln) rs148833313 0.00018
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=) rs545459178 0.00017
NM_001457.4(FLNB):c.5785G>A (p.Asp1929Asn) rs146685642 0.00017
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) rs200550959 0.00017
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_198282.4(STING1):c.340G>A (p.Gly114Ser) rs189211438 0.00017
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_001083116.3(PRF1):c.1357G>A (p.Val453Met) rs141864315 0.00016
NM_001366385.1(CARD14):c.1728G>A (p.Gly576=) rs375480599 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) rs146949180 0.00016
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr) rs139719757 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_015915.5(ATL1):c.991-6T>G rs192428744 0.00016
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_002335.4(LRP5):c.3468G>A (p.Gln1156=) rs724159825 0.00015
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn) rs189870832 0.00015
NM_006767.4(LZTR1):c.96T>C (p.His32=) rs372440263 0.00015
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001366385.1(CARD14):c.1091C>T (p.Ala364Val) rs141698692 0.00014
NM_001370466.1(NOD2):c.1275C>T (p.Ile425=) rs186719861 0.00014
NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn) rs61755272 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001972.4(ELANE):c.174C>T (p.Thr58=) rs199714513 0.00014
NM_001972.4(ELANE):c.428G>A (p.Arg143His) rs200993994 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_005343.4(HRAS):c.102C>T (p.Pro34=) rs149199691 0.00014
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr) rs150615169 0.00014
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_001025295.3(IFITM5):c.42G>A (p.Thr14=) rs775669597 0.00013
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln) rs556191085 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=) rs568904847 0.00012
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=) rs370034518 0.00012
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001457.4(FLNB):c.2931G>A (p.Leu977=) rs574484752 0.00012
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817 0.00012
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn) rs145034964 0.00012
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001366385.1(CARD14):c.35C>T (p.Thr12Met) rs569889639 0.00011
NM_001853.4(COL9A3):c.1245C>A (p.Gly415=) rs73598379 0.00011
NM_002156.5(HSPD1):c.1488A>G (p.Gln496=) rs142434256 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=) rs369835681 0.00011
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=) rs148434838 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_015087.5(SPART):c.1689C>T (p.Ile563=) rs201030352 0.00011
NM_018699.4(PRDM5):c.1282+9C>T rs79915407 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_000081.4(LYST):c.5374A>G (p.Asn1792Asp) rs143696500 0.00010
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=) rs368746726 0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00010
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456 0.00010
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr) rs770324989 0.00009
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=) rs137967792 0.00009
NM_001370466.1(NOD2):c.2979G>A (p.Gly993=) rs374689495 0.00009
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_002860.4(ALDH18A1):c.1248G>A (p.Gly416=) rs757733068 0.00009
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.517-4T>C rs571529866 0.00009
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=) rs60284677 0.00009
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=) rs371946947 0.00009
NM_015915.5(ATL1):c.417+3A>G rs200310890 0.00009
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) rs200495316 0.00008
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) rs199888009 0.00008
NM_001366385.1(CARD14):c.1653G>A (p.Ser551=) rs369746581 0.00008
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_001370466.1(NOD2):c.402C>T (p.Phe134=) rs565504727 0.00008
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=) rs138475832 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_006182.4(DDR2):c.2068A>G (p.Met690Val) rs377626332 0.00008
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn) rs534497092 0.00008
NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn) rs748314396 0.00008
NM_000088.4(COL1A1):c.3532-3C>T rs369283493 0.00007
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr) rs780229500 0.00007
NM_001243133.2(NLRP3):c.2940C>T (p.Gly980=) rs199649583 0.00007
NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=) rs374172438 0.00007
NM_001370466.1(NOD2):c.1875G>A (p.Ser625=) rs141355588 0.00007
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_002381.5(MATN3):c.354C>T (p.Ala118=) rs192462913 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val) rs369498554 0.00007
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_007347.5(AP4E1):c.441A>G (p.Leu147=) rs776915189 0.00007
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp) rs201750444 0.00007
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00007
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=) rs767002656 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00006
NM_001065.4(TNFRSF1A):c.672T>C (p.Leu224=) rs202150552 0.00006
NM_001199138.2(NLRC4):c.480T>C (p.Ala160=) rs372559110 0.00006
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=) rs771217469 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001972.4(ELANE):c.597+10C>G rs201460728 0.00006
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) rs200179967 0.00006
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) rs397516885 0.00006
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys) rs375670819 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.6C>G (p.Ala2=) rs770473070 0.00006
NM_005619.5(RTN2):c.1068G>A (p.Thr356=) rs370997046 0.00006
NM_005619.5(RTN2):c.672G>A (p.Ser224=) rs377094463 0.00006
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_015102.5(NPHP4):c.3915C>T (p.Leu1305=) rs370424194 0.00006
NM_030662.4(MAP2K2):c.450+9G>A rs375368051 0.00006
NM_144687.4(NLRP12):c.1599C>T (p.Gly533=) rs758678359 0.00006
NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys) rs139165669 0.00006
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=) rs774035950 0.00005
NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=) rs546229885 0.00005
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=) rs559393431 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) rs368686815 0.00005
NM_152594.3(SPRED1):c.685-8T>C rs760690837 0.00005
NM_198282.4(STING1):c.971C>T (p.Ser324Leu) rs772018436 0.00005
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.2485-10T>C rs369553063 0.00004
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg) rs557798071 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His) rs775728252 0.00004
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln) rs139104022 0.00004
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001972.4(ELANE):c.568G>A (p.Val190Met) rs367663236 0.00004
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=) rs751378266 0.00004
NM_002335.4(LRP5):c.2547C>T (p.Phe849=) rs771492871 0.00004
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003238.6(TGFB2):c.555C>T (p.Ile185=) rs760740958 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207 0.00004
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188 0.00004
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_006517.5(SLC16A2):c.1430A>G (p.His477Arg) rs754443385 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr) rs551062468 0.00004
NM_015915.5(ATL1):c.570C>G (p.Leu190=) rs202173614 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_144687.4(NLRP12):c.14C>A (p.Ala5Glu) rs761545315 0.00004
NM_144687.4(NLRP12):c.153C>T (p.Ala51=) rs757210851 0.00004
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00003
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000361.3(THBD):c.1083G>A (p.Glu361=) rs370377519 0.00003
NM_001243133.2(NLRP3):c.2584G>C (p.Glu862Gln) rs202149902 0.00003
NM_001244008.2(KIF1A):c.2409C>T (p.Asn803=) rs746800505 0.00003
NM_001366385.1(CARD14):c.1188C>G (p.Val396=) rs147432650 0.00003
NM_001366385.1(CARD14):c.1428C>T (p.Pro476=) rs368432283 0.00003
NM_001366385.1(CARD14):c.2159G>A (p.Arg720His) rs202094920 0.00003
NM_001366385.1(CARD14):c.2775C>T (p.Val925=) rs372790630 0.00003
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) rs574024256 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro) rs759456303 0.00003
NM_001457.4(FLNB):c.1278C>T (p.His426=) rs572259451 0.00003
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln) rs202234596 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121 0.00003
NM_005633.4(SOS1):c.2616T>G (p.Leu872=) rs768058218 0.00003
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110 0.00003
NM_006767.4(LZTR1):c.1402C>T (p.Arg468Cys) rs374741798 0.00003
NM_006767.4(LZTR1):c.2394C>T (p.His798=) rs770445427 0.00003
NM_006949.4(STXBP2):c.1453-10C>T rs368488488 0.00003
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His) rs201339450 0.00003
NM_021625.5(TRPV4):c.1422C>T (p.Asn474=) rs140533102 0.00003
NM_022489.4(INF2):c.3435C>T (p.Ala1145=) rs780026536 0.00003
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_144687.4(NLRP12):c.858C>T (p.Pro286=) rs145171629 0.00003
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg) rs775334473 0.00003
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=) rs545430645 0.00003
NM_000047.3(ARSL):c.-10G>C rs555426001 0.00002
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu) rs782602356 0.00002
NM_000090.4(COL3A1):c.696A>G (p.Glu232=) rs193922177 0.00002
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=) rs371875408 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.6378C>T (p.Val2126=) rs760941036 0.00002
NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=) rs546774166 0.00002
NM_001243133.2(NLRP3):c.2241T>C (p.Ser747=) rs199535084 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001278116.2(L1CAM):c.198-9C>T rs782753470 0.00002
NM_001366385.1(CARD14):c.198C>T (p.Ser66=) rs1254076623 0.00002
NM_001457.4(FLNB):c.1107C>T (p.Asn369=) rs538953239 0.00002
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) rs376893941 0.00002
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292 0.00002
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=) rs1057520833 0.00002
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=) rs574476271 0.00002
NM_003978.5(PSTPIP1):c.549G>A (p.Ser183=) rs554161203 0.00002
NM_005546.4(ITK):c.244-8G>A rs199759038 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00002
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly) rs199731077 0.00002
NM_015214.3(DDHD2):c.375T>C (p.Tyr125=) rs201640343 0.00002
NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp) rs571962145 0.00002
NM_024306.5(FA2H):c.771C>T (p.His257=) rs371293493 0.00002
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=) rs3135891 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000316.3(PTH1R):c.*7G>A rs199649688 0.00001
NM_001042492.3(NF1):c.2061A>G (p.Leu687=) rs143671377 0.00001
NM_001042492.3(NF1):c.3871-4G>C rs558421445 0.00001
NM_001042492.3(NF1):c.3975-4G>A rs760207624 0.00001
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) rs145393127 0.00001
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857 0.00001
NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg) rs568294049 0.00001
NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met) rs750526845 0.00001
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr) rs770505969 0.00001
NM_001243133.2(NLRP3):c.240C>T (p.Asp80=) rs200214031 0.00001
NM_001243133.2(NLRP3):c.2492+8G>A rs201453934 0.00001
NM_001366385.1(CARD14):c.2025G>A (p.Ser675=) rs778055809 0.00001
NM_001366385.1(CARD14):c.922C>T (p.Leu308=) rs537507973 0.00001
NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys) rs273585622 0.00001
NM_001367624.2(ZNF469):c.8678C>T (p.Pro2893Leu) rs529013712 0.00001
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00001
NM_001370466.1(NOD2):c.359G>A (p.Ser120Asn) rs776403451 0.00001
NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu) rs753744335 0.00001
NM_001457.4(FLNB):c.5533G>A (p.Val1845Ile) rs575434109 0.00001
NM_001457.4(FLNB):c.6755A>T (p.Tyr2252Phe) rs200567066 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_002755.4(MAP2K1):c.292-8T>A rs966429123 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=) rs1435290161 0.00001
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073 0.00001
NM_004333.6(BRAF):c.957C>T (p.Ser319=) rs754029526 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser) rs749301835 0.00001
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=) rs199805770 0.00001
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) rs567650774 0.00001
NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=) rs773460001 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val) rs1435117815 0.00001
NM_198282.4(STING1):c.877C>T (p.Arg293Trp) rs756770138 0.00001
NM_000047.3(ARSL):c.-14GA[4] rs200332753
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000089.4(COL1A2):c.1252-8_1252-7del rs35587403
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.3201+8C>A rs765137525
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) rs367804791
NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) rs577270517
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000095.3(COMP):c.768C>A (p.Ala256=) rs369897902
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000204.5(CFI):c.329-8del
NM_000204.5(CFI):c.482+6C>A rs79375065
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)
NM_000361.3(THBD):c.1356C>A (p.Ser452=) rs532533123
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=) rs79625057
NM_001025295.3(IFITM5):c.187-10CT[2] rs781543593
NM_001042492.3(NF1):c.2685G>A (p.Met895Ile) rs770295902
NM_001042492.3(NF1):c.3198-10_3198-4del rs371047262
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) rs200376188
NM_001083116.3(PRF1):c.519G>A (p.Thr173=) rs112883709
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001128126.3(AP4S1):c.306+4182dup rs766477779
NM_001128126.3(AP4S1):c.306+4275G>C rs528491755
NM_001160148.2(DDHD1):c.1993-19dup rs755741246
NM_001189.4(NKX3-2):c.190G>C (p.Gly64Arg) rs202195290
NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=) rs186059604
NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys) rs145285650
NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=) rs2148927438
NM_001199138.2(NLRC4):c.459C>G (p.Thr153=) rs1687075064
NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=) rs201102829
NM_001243133.2(NLRP3):c.251A>G (p.Lys84Arg) rs2103084742
NM_001243133.2(NLRP3):c.627C>T (p.Pro209=) rs554444159
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del) rs537259520
NM_001365276.2(TNXB):c.11349G>A (p.Ala3783=) rs769074772
NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=) rs6457479
NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu) rs181025235
NM_001366385.1(CARD14):c.1530G>A (p.Pro510=) rs376285944
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile) rs114688446
NM_001366385.1(CARD14):c.931C>A (p.Arg311=) rs145167842
NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala) rs140056980
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln) rs141042464
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del) rs775423936
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162
NM_001367624.2(ZNF469):c.9120G>A (p.Pro3040=) rs534910156
NM_001370466.1(NOD2):c.255C>T (p.Ala85=) rs770046355
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001776.6(ENTPD1):c.1494C>T (p.Ile498=) rs565508317
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001999.4(FBN2):c.143G>T (p.Arg48Leu) rs779831723
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002156.5(HSPD1):c.1434C>G (p.Thr478=) rs199527127
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
NM_002335.4(LRP5):c.3487C>T (p.Leu1163Phe) rs562616743
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.4446G>A (p.Ser1482=) rs142191419
NM_002335.4(LRP5):c.4446G>C (p.Ser1482=) rs142191419
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) rs761080016
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1947G>A (p.Ter649=) rs1471833190
NM_002880.4(RAF1):c.424-5_424-3del rs764020787
NM_002909.5(REG1A):c.168C>T (p.Thr56=)
NM_003119.4(SPG7):c.184-5_184-4del rs5818722
NM_003978.5(PSTPIP1):c.-421CCTG[6] rs55909412
NM_003978.5(PSTPIP1):c.1086G>A (p.Gln362=) rs528187669
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=) rs538042433
NM_004333.6(BRAF):c.1203C>T (p.Thr401=) rs370130654
NM_004333.6(BRAF):c.2128-4G>T rs956143558
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.96CGC[4] (p.Ala34_Ala35dup) rs2129153215
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004621.6(TRPC6):c.1196G>A (p.Arg399Gln)
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.2488G>A (p.Gly830Arg)
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004733.4(SLC33A1):c.1569T>C (p.Gly523=) rs150442784
NM_004820.5(CYP7B1):c.123-19dup rs8192895
NM_004820.5(CYP7B1):c.123-9del rs8192895
NM_004820.5(CYP7B1):c.75C>A (p.Ala25=) rs536629832
NM_004836.7(EIF2AK3):c.40CTG[10] (p.Leu20_Leu21dup) rs1805190
NM_004924.6(ACTN4):c.1229G>A (p.Arg410Gln)
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_004998.4(MYO1E):c.*716A>G
NM_005032.7(PLS3):c.749-8del rs111323826
NM_005188.4(CBL):c.*7578TC[1] rs376134331
NM_005188.4(CBL):c.534A>G (p.Thr178=) rs1346848498
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln) rs369158895
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2674-9del rs532594344
NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)
NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)
NM_006129.5(BMP1):c.2487C>A (p.Pro829=) rs367978759
NM_006579.3(EBP):c.-74+3G>C rs188270695
NM_006612.6(KIF1C):c.1750+6_1750+8del rs551276433
NM_006612.6(KIF1C):c.720+18_720+20del rs10533622
NM_006767.4(LZTR1):c.2103C>T (p.Pro701=) rs139080986
NM_006883.2(SHOX):c.-432-14_-432-7del rs767085863
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_007366.5(PLA2R1):c.-127del
NM_007366.5(PLA2R1):c.425G>A (p.Arg142Gln)
NM_007366.5(PLA2R1):c.816T>C (p.Asp272=)
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_012120.3(CD2AP):c.297A>G (p.Pro99=)
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_014844.5(TECPR2):c.*1716G>C rs56232046
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup) rs572609303
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=) rs376646346
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys) rs558882317
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=) rs569208946
NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr) rs531152715
NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=) rs7156492
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=) rs35018134
NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=) rs550301037
NM_015922.3(NSDHL):c.928C>A (p.Leu310Met) rs782808515
NM_016341.4(PLCE1):c.3492G>A (p.Thr1164=)
NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser) rs61732525
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849
NM_020435.4(GJC2):c.*5G>T rs78587210
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_022167.4(XYLT2):c.2023G>A (p.Val675Met) rs147831067
NM_022489.4(INF2):c.1377G>C (p.Pro459=) rs776870726
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024989.4(PGAP1):c.84C>G (p.Val28=) rs144502622
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.2621-15dup rs577083743
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys) rs564171625
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_080680.3(COL11A2):c.4854C>T (p.Asp1618=) rs151319255
NM_144599.5(NIPA1):c.21_23del (p.Ala16del) rs769916931
NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del) rs1555371600
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_144687.4(NLRP12):c.1854C>T (p.Tyr618=) rs142487599
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp) rs104895570
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.882C>T (p.Asp294=) rs147080557
NM_152594.3(SPRED1):c.207+10A>G rs918390069
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_198282.4(STING1):c.1124G>A (p.Arg375His) rs117897081
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905

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