ClinVar Miner

List of variants reported as likely benign for bone disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2018
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HGVS dbSNP gnomAD frequency
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val) rs1805034 0.56701
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.43916
NM_032043.3(BRIP1):c.*2082_*2085del rs10601136 0.37829
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.35815
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.35815
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033 0.27889
NM_003839.4(TNFRSF11A):c.-39G>A rs7238731 0.27758
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_006129.5(BMP1):c.*145T>C rs7001 0.20026
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_000046.3(ARSB):c.-564A>G rs59558132 0.16591
NM_000046.3(ARSB):c.-958A>G rs57586329 0.16084
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.*1312A>G rs11398 0.15212
NM_000046.3(ARSB):c.-906C>G rs62377914 0.14409
NM_031296.3(RAB33B):c.*595G>A rs13137997 0.13673
NM_015311.3(OBSL1):c.-42del rs757193063 0.13587
NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr) rs35211496 0.12362
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11622
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.10957
NM_000147.4(FUCA1):c.-86T>G rs2070953 0.10765
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_031296.3(RAB33B):c.*543C>T rs79952078 0.09274
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08953
NM_004273.5(CHST3):c.*1899G>A rs17297481 0.08826
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.08036
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07657
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07552
NC_000005.10:g.78777202T>C rs16875887 0.07068
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06536
NC_000016.10:g.72008736A>G rs34270657 0.06333
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06023
NM_002855.5(NECTIN1):c.*1391C>T rs73573188 0.05825
NM_002834.5(PTPN11):c.*1006del rs146940557 0.05739
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.05648
NC_000009.12:g.35080028T>A rs17885140 0.05615
NM_003659.4(AGPS):c.*5023C>A rs148879448 0.05556
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_000493.4(COL10A1):c.*13del rs201694987 0.04951
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=) rs41310390 0.04950
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.04924
NM_002076.4(GNS):c.*3068_*3069dup rs397946778 0.04705
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04686
NM_004273.5(CHST3):c.*3555G>A rs4148951 0.04479
NM_004273.5(CHST3):c.*3039C>T rs74145519 0.04476
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
NM_004273.5(CHST3):c.*4770G>A rs4148953 0.04304
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04249
NM_000135.4(FANCA):c.*679del rs375657470 0.04242
NM_001127671.2(LIFR):c.*6640dup rs57386567 0.04066
NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter) rs12077871 0.04036
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03993
NM_002334.4(LRP4):c.*261C>A rs77376145 0.03985
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_031296.3(RAB33B):c.*254A>G rs78192594 0.03930
NM_003722.5(TP63):c.*2636del rs5855278 0.03709
NM_004273.5(CHST3):c.*1370G>A rs60924680 0.03692
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_001353214.3(DYM):c.1914G>C (p.Val638=) rs60818038 0.03594
NM_004273.5(CHST3):c.*2026A>G rs115545740 0.03519
NM_000376.3(VDR):c.*437C>G rs11574119 0.03464
NM_024312.5(GNPTAB):c.*323T>C rs75757716 0.03440
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03320
NM_000376.3(VDR):c.*562A>C rs3858733 0.03190
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_000376.3(VDR):c.*2974A>T rs11574139 0.03175
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03038
NM_002855.5(NECTIN1):c.*3013G>A rs75467939 0.03017
NM_004273.5(CHST3):c.*1006T>C rs116018996 0.02989
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02972
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313 0.02947
NM_000512.4(GALNS):c.-92T>C rs116702472 0.02908
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02842
NM_004994.3(MMP9):c.59C>T (p.Ala20Val) rs1805088 0.02828
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_002334.4(LRP4):c.*1825_*1826del rs147363340 0.02795
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_000110.4(DPYD):c.*900T>C rs17470762 0.02724
NM_005373.3(MPL):c.*662C>T rs1763698 0.02711
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02634
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02574
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_002334.4(LRP4):c.*929C>A rs79910473 0.02450
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_003839.4(TNFRSF11A):c.75+5G>A rs146553439 0.02406
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02379
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02377
NM_000376.3(VDR):c.*1242A>G rs7954412 0.02375
NM_002855.5(NECTIN1):c.*2103C>T rs148431472 0.02370
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02259
NC_000012.12:g.109833413C>T rs56079803 0.02258
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02226
NM_000376.3(VDR):c.*1281G>A rs7967673 0.02221
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000376.3(VDR):c.*2827A>G rs11574138 0.02211
NM_004239.4(TRIP11):c.*387del rs148331500 0.02205
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) rs138818878 0.02149
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=) rs8176345 0.02124
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02086
NM_001143985.1(BANF1):c.-254G>T rs78790365 0.02064
NM_006129.5(BMP1):c.*444C>T rs73670384 0.02062
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_014140.4(SMARCAL1):c.-200G>A rs79352134 0.02034
NM_001174147.2(LMX1B):c.*1106_*1107del rs201556524 0.02012
NM_014140.4(SMARCAL1):c.-137A>G rs115172989 0.01997
NM_002334.4(LRP4):c.*2104C>G rs7928628 0.01993
NM_002855.5(NECTIN1):c.*2702T>C rs59997117 0.01978
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_004273.5(CHST3):c.*1101T>G rs116999241 0.01973
NM_004273.5(CHST3):c.-274G>T rs146305825 0.01897
NM_004273.5(CHST3):c.*1425C>T rs80269486 0.01869
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01848
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01847
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_031296.3(RAB33B):c.*590T>C rs78607198 0.01799
NM_000376.3(VDR):c.*408T>C rs112308011 0.01783
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01781
NM_002734.5(PRKAR1A):c.*1837G>T rs201999343 0.01775
NM_031296.3(RAB33B):c.*2026G>A rs144602972 0.01770
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_000308.3(CTSA):c.-223G>A rs117529875 0.01763
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01746
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_004273.5(CHST3):c.*1426T>C rs76062174 0.01720
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01710
NM_001039958.2(MESP2):c.*326C>T rs76163582 0.01683
NM_002855.5(NECTIN1):c.*1610G>C rs114004441 0.01660
NM_003839.4(TNFRSF11A):c.*668G>T rs78622775 0.01625
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_004273.5(CHST3):c.*255C>T rs114569872 0.01583
NM_030957.4(ADAMTS10):c.-198A>G rs4530289 0.01579
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01578
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01563
NM_000112.4(SLC26A2):c.*2617C>T rs188922059 0.01558
NM_173842.3(IL1RN):c.*310T>C rs4252027 0.01540
NM_173842.3(IL1RN):c.459C>T (p.Asp153=) rs4252023 0.01535
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_000112.4(SLC26A2):c.*4391G>T rs150508217 0.01531
NM_000168.6(GLI3):c.*1042dup rs200076691 0.01529
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_031296.3(RAB33B):c.*1403C>A rs75661332 0.01524
NM_001377.3(DYNC2H1):c.*265C>T rs78537620 0.01499
NM_000376.3(VDR):c.*2593A>G rs11168263 0.01497
NM_000376.3(VDR):c.*409G>A rs11574118 0.01495
NM_000785.4(CYP27B1):c.*415G>A rs8176351 0.01487
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01439
NM_000308.3(CTSA):c.-43G>T rs116893852 0.01437
NM_006371.5(CRTAP):c.*2474T>G rs78745278 0.01414
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001017995.3(SH3PXD2B):c.1983C>T (p.Val661=) rs73317798 0.01401
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01400
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01376
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01360
NM_002296.3(LBR):c.-126C>T rs186519008 0.01355
NM_000110.4(DPYD):c.681-8C>T rs74774246 0.01331
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01329
NM_152419.3(HGSNAT):c.*817C>T rs78952714 0.01322
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01305
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NC_000005.10:g.44304990T>A rs111763965 0.01295
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01282
NM_006129.5(BMP1):c.*108A>C rs556361110 0.01272
NM_004273.5(CHST3):c.*483G>A rs113283291 0.01271
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01253
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile) rs11122266 0.01237
NM_006129.5(BMP1):c.*350C>T rs77383472 0.01236
NM_017777.4(MKS1):c.-18C>G rs116514023 0.01231
NM_004530.6(MMP2):c.1337-7T>C rs17859942 0.01222
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01222
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01209
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_006306.4(SMC1A):c.*96C>T rs139317060 0.01188
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01184
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01173
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) rs61729806 0.01158
NM_016175.4(MRNIP):c.729C>T (p.Asp243=) rs61742526 0.01155
NM_005373.3(MPL):c.*1054G>A rs139528456 0.01153
NM_001017995.3(SH3PXD2B):c.*3815del rs151201604 0.01148
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01134
NM_018965.4(TREM2):c.*73G>A rs2234258 0.01125
NM_139057.4(ADAMTS17):c.*474C>T rs117821788 0.01125
NM_004273.5(CHST3):c.*3666G>A rs113342172 0.01117
NM_003900.5(SQSTM1):c.*786G>A rs73334055 0.01108
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_002427.4(MMP13):c.*628A>G rs114428333 0.01102
NM_001199397.3(NEK1):c.-488C>T rs62334514 0.01094
NM_006182.4(DDR2):c.83-4C>T rs76156815 0.01091
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_003839.4(TNFRSF11A):c.1397G>A (p.Arg466His) rs35993683 0.01070
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796 0.01063
NM_020779.4(WDR35):c.*1575_*1576dup rs202074829 0.01057
NM_001321120.2(TBX4):c.*313A>C rs141279587 0.01054
NM_006306.4(SMC1A):c.*3838G>A rs144702614 0.01053
NM_002296.4(LBR):c.*656G>A rs80028106 0.01039
NM_001011658.4(TRAPPC2):c.*1229C>T rs141809461 0.01037
NM_006306.4(SMC1A):c.*2973C>T rs56110615 0.01037
NM_006208.3(ENPP1):c.*2076C>T rs117531639 0.01036
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_002076.4(GNS):c.*599T>A rs151304792 0.01029
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01019
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_004239.4(TRIP11):c.*288C>A rs61988386 0.01011
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01011
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01000
NM_003659.4(AGPS):c.*1701T>C rs189318576 0.00996
NM_030957.4(ADAMTS10):c.*171G>A rs79238375 0.00991
NM_000112.4(SLC26A2):c.*4870dup rs368872246 0.00983
NM_000112.4(SLC26A2):c.*938T>C rs150188068 0.00983
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000112.4(SLC26A2):c.*4930C>T rs79521091 0.00981
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.00979
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00977
NM_006129.5(BMP1):c.*44G>C rs75202363 0.00974
NM_000112.4(SLC26A2):c.*2873C>T rs114919633 0.00970
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500 0.00956
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_152419.3(HGSNAT):c.*3213T>A rs141634395 0.00948
NM_014762.4(DHCR24):c.*218C>A rs145558556 0.00942
NM_000112.4(SLC26A2):c.*394T>A rs140641532 0.00940
NM_002296.3(LBR):c.-167C>T rs12096558 0.00933
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00890
NM_002076.4(GNS):c.*2751C>T rs137943279 0.00886
NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) rs61737008 0.00886
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00874
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00865
NM_003722.5(TP63):c.*1620T>C rs34328757 0.00863
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00862
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_004560.4(ROR2):c.-91G>A rs141262722 0.00854
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_001039958.2(MESP2):c.-11G>A rs139599055 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000308.3(CTSA):c.-172A>C rs184484066 0.00832
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813 0.00832
NM_002855.5(NECTIN1):c.*2481A>G rs3751021 0.00828
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001353214.3(DYM):c.342G>A (p.Leu114=) rs35357262 0.00822
NM_005373.3(MPL):c.543T>C (p.Gly181=) rs17572791 0.00819
NM_004273.5(CHST3):c.*1823G>C rs116289781 0.00816
NM_004273.5(CHST3):c.*2163A>G rs114563668 0.00816
NM_004273.5(CHST3):c.*2826G>A rs114457501 0.00816
NM_004273.5(CHST3):c.*3890C>T rs79559408 0.00815
NM_004273.5(CHST3):c.*4095A>G rs114800040 0.00815
NM_004273.5(CHST3):c.*203A>G rs77359818 0.00814
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00793
NM_058172.6(ANTXR2):c.*947T>C rs114449405 0.00787
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00774
NM_002734.5(PRKAR1A):c.*138C>A rs28730842 0.00772
NM_004273.5(CHST3):c.*2391C>T rs116391584 0.00761
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00760
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_005461.5(MAFB):c.-206T>G rs527524576 0.00747
NM_005461.5(MAFB):c.-204_-203del rs201369817 0.00742
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
NM_006306.4(SMC1A):c.*5380G>A rs186354950 0.00739
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_005373.3(MPL):c.*709C>T rs185654501 0.00737
NM_002855.5(NECTIN1):c.*3173G>A rs76459888 0.00736
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00734
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00731
NM_006306.4(SMC1A):c.*4645T>C rs150365487 0.00731
NM_020638.3(FGF23):c.*388G>A rs13312795 0.00731
NM_001854.4(COL11A1):c.*1322G>A rs139810625 0.00724
NM_002546.4(TNFRSF11B):c.*545T>C rs11573947 0.00719
NM_003839.4(TNFRSF11A):c.*1738C>T rs6567277 0.00718
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00714
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00709
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_001793.5(CDH3):c.-399G>C rs74674351 0.00696
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00692
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00691
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493 0.00687
NM_058172.6(ANTXR2):c.*2303A>C rs115504770 0.00686
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00675
NM_000404.4(GLB1):c.*376C>G rs147437116 0.00659
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_001854.4(COL11A1):c.*632G>A rs74108029 0.00651
NM_002734.5(PRKAR1A):c.*759C>T rs62087489 0.00648
NM_000528.4(MAN2B1):c.*42G>A rs149101136 0.00647
NM_003701.4(TNFSF11):c.*745T>C rs12721444 0.00642
NM_003722.5(TP63):c.*1343T>C rs35659283 0.00640
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00638
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000112.4(SLC26A2):c.*1552G>C rs143723917 0.00636
NM_021926.4(ALX4):c.*290T>C rs7128671 0.00632
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_003722.5(TP63):c.*2139G>A rs35356690 0.00627
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_139057.4(ADAMTS17):c.*420G>A rs556966662 0.00622
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00618
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00615
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00609
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00609
NM_001375808.2(LPIN2):c.*358G>A rs184193388 0.00608
NM_002427.4(MMP13):c.1169A>G (p.Asp390Gly) rs17860568 0.00603
NM_012434.5(SLC17A5):c.*560G>A rs115453489 0.00594
NM_000376.3(VDR):c.444C>T (p.Ser148=) rs2229828 0.00592
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr) rs61751992 0.00589
NM_003900.5(SQSTM1):c.*83G>A rs155790 0.00589
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00585
NM_003193.5(TBCE):c.-93T>A rs114193373 0.00584
NM_032043.3(BRIP1):c.*283del rs531656835 0.00584
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00583
NM_001353214.3(DYM):c.*22G>A rs113500346 0.00580
NM_173841.2(IL1RN):c.-83G>A rs45526933 0.00580
NM_005708.5(GPC6):c.*1261G>A rs141909370 0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_021939.3(FKBP10):c.-267G>A rs114527140 0.00556
NM_001854.4(COL11A1):c.*1203G>A rs190577885 0.00554
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp) rs10249320 0.00549
NM_001361.5(DHODH):c.*868A>G rs149599098 0.00547
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00547
NM_001109878.2(TBX22):c.798+11T>C rs199643713 0.00545
NM_152419.3(HGSNAT):c.*2258A>G rs78930544 0.00544
NM_006371.5(CRTAP):c.*3950G>A rs141093723 0.00541
NM_000112.4(SLC26A2):c.*2780G>A rs9324635 0.00540
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00538
NM_006019.4(TCIRG1):c.*68G>A rs139720520 0.00538
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) rs146689929 0.00538
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.*119C>T rs146119949 0.00526
NM_139057.4(ADAMTS17):c.*1234G>A rs543905312 0.00526
NM_006208.3(ENPP1):c.*1122A>G rs148507889 0.00523
NM_014762.4(DHCR24):c.*102C>T rs114267476 0.00518
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00517
NM_000088.4(COL1A1):c.*1233G>A rs73987442 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_139057.4(ADAMTS17):c.*880C>T rs187416809 0.00515
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013 0.00500
NM_003722.5(TP63):c.*2016A>G rs115660354 0.00499
NM_006371.5(CRTAP):c.*2876C>T rs147135876 0.00499
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00496
NM_006208.3(ENPP1):c.*3176T>A rs114333444 0.00490
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_006371.5(CRTAP):c.*4017G>A rs115504052 0.00488
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_006371.5(CRTAP):c.*4705G>T rs145711257 0.00484
NM_000404.4(GLB1):c.*184G>A rs143430374 0.00483
NM_001159773.2(CANT1):c.*1376C>G rs139673784 0.00478
NM_001159773.2(CANT1):c.*696T>G rs149991908 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001017995.3(SH3PXD2B):c.*3629C>A rs187661302 0.00476
NC_000006.12:g.33192481C>T rs533843327 0.00469
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00469
NM_006371.5(CRTAP):c.*4129T>C rs76450273 0.00468
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00463
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_005857.5(ZMPSTE24):c.*733A>G rs75849141 0.00460
NM_006208.3(ENPP1):c.*1038T>A rs79214335 0.00460
NM_182760.4(SUMF1):c.*396C>G rs113056454 0.00459
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00457
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_003722.5(TP63):c.*2002T>G rs35969817 0.00452
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00452
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001109878.2(TBX22):c.176-13C>A rs55760411 0.00447
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00447
NM_001365308.1(BMPER):c.1797C>T (p.Cys599=) rs74674953 0.00446
NM_152419.3(HGSNAT):c.*2767C>T rs74762381 0.00446
NM_153717.3(EVC):c.*2126T>G rs191415414 0.00444
NM_002010.3(FGF9):c.-118_-117insC rs1555223896 0.00442
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00442
NM_001375808.2(LPIN2):c.*2553G>A rs149332969 0.00440
NM_006371.5(CRTAP):c.*2943A>G rs115684525 0.00440
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_004560.4(ROR2):c.-60G>T rs184095609 0.00434
NM_001017995.3(SH3PXD2B):c.*3202C>T rs180938966 0.00429
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124 0.00428
NM_003722.5(TP63):c.*854A>G rs187751631 0.00427
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00425
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00422
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_000308.4(CTSA):c.*51C>G rs375835315 0.00419
NM_030957.4(ADAMTS10):c.2016C>T (p.Cys672=) rs10414102 0.00419
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_001365308.1(BMPER):c.417A>T (p.Thr139=) rs147600292 0.00418
NM_006371.5(CRTAP):c.*3454C>T rs140429132 0.00417
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00412
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00412
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_004994.3(MMP9):c.70C>T (p.Arg24Cys) rs144023823 0.00405
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00403
NM_006129.5(BMP1):c.*223C>T rs79496486 0.00402
NM_012463.4(ATP6V0A2):c.*998T>C rs12298446 0.00401
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00400
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00399
NM_001024630.4(RUNX2):c.-11_-9del rs139788537 0.00393
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00391
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00389
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00388
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) rs11573942 0.00387
NM_003860.4(BANF1):c.*100C>T rs145574018 0.00387
NM_058172.6(ANTXR2):c.*4630A>T rs190569143 0.00385
NM_001159773.2(CANT1):c.-96C>T rs143084065 0.00384
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220 0.00382
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00381
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795 0.00381
NM_003995.4(NPR2):c.873+13C>A rs61758520 0.00377
NM_020800.3(IFT80):c.*1089T>C rs181651029 0.00377
NM_024753.5(TTC21B):c.*656G>A rs180737925 0.00376
NM_001017995.3(SH3PXD2B):c.*1478T>C rs144551299 0.00374
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_001793.6(CDH3):c.*485A>G rs192275133 0.00369
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00367
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001017995.3(SH3PXD2B):c.*642C>T rs192181401 0.00363
NM_005373.3(MPL):c.*1506G>A rs115780311 0.00362
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00360
NM_006129.5(BMP1):c.2234-12G>A rs200787977 0.00359
NM_058172.6(ANTXR2):c.*1563A>G rs143402499 0.00359
NM_080680.3(COL11A2):c.*119G>A rs183458493 0.00358
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_001375808.2(LPIN2):c.*1586G>A rs144299426 0.00354
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00353
NM_022039.4(FBXW4):c.134C>T (p.Ala45Val) rs557225276 0.00351
NM_000512.5(GALNS):c.-32C>T rs556283159 0.00350
NM_002734.5(PRKAR1A):c.*151A>G rs11540571 0.00349
NM_003659.4(AGPS):c.*385G>C rs114266155 0.00346
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00346
NM_001017995.3(SH3PXD2B):c.*306C>A rs142853015 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000428.3(LTBP2):c.3527-3C>A rs138194436 0.00344
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_058172.6(ANTXR2):c.*2245G>A rs116794675 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_000112.4(SLC26A2):c.-183G>C rs540241474 0.00338
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_000785.4(CYP27B1):c.*77G>A rs8176350 0.00334
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_207122.2(EXT2):c.*101G>C rs117755165 0.00332
NM_006182.4(DDR2):c.1504+11T>C rs77385055 0.00331
NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp) rs34539681 0.00329
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00329
NM_058172.6(ANTXR2):c.*3902C>T rs191348548 0.00329
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821 0.00329
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00325
NM_006306.4(SMC1A):c.*4952_*4953del rs782700101 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00324
NM_003659.4(AGPS):c.1698-14T>C rs113523500 0.00324
NM_014762.4(DHCR24):c.*2442G>T rs115017311 0.00323
NM_025237.3(SOST):c.*222A>G rs544576964 0.00323
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_021939.4(FKBP10):c.504C>T (p.Pro168=) rs113640022 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_025237.3(SOST):c.-21T>G rs202008449 0.00319
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00318
NM_012434.5(SLC17A5):c.*588G>A rs533473425 0.00317
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=) rs115417324 0.00317
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) rs200121871 0.00316
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00315
NM_006371.5(CRTAP):c.*288C>T rs111603077 0.00315
NM_012463.4(ATP6V0A2):c.-117C>T rs532360215 0.00315
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00314
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00313
NM_001361.5(DHODH):c.*139C>T rs140263128 0.00311
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00310
NM_006129.5(BMP1):c.*328T>C rs113594473 0.00310
NM_153717.3(EVC):c.*1439C>T rs188270163 0.00310
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620 0.00307
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000493.4(COL10A1):c.1851T>C (p.Asn617=) rs61745148 0.00305
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00305
NM_000900.5(MGP):c.*140T>C rs148802642 0.00302
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00301
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00301
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797 0.00299
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683 0.00299
NM_002427.4(MMP13):c.799+7C>T rs72987505 0.00298
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00298
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00298
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_001127671.2(LIFR):c.*2570G>C rs113730751 0.00296
NM_001127671.2(LIFR):c.*2567G>A rs112458059 0.00295
NM_014762.4(DHCR24):c.81C>T (p.Leu27=) rs140995590 0.00294
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_152419.3(HGSNAT):c.*2740C>T rs114940430 0.00293
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00292
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_005857.5(ZMPSTE24):c.*678G>C rs67294434 0.00289
NM_014762.4(DHCR24):c.*392C>T rs116490123 0.00289
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00287
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_003659.4(AGPS):c.*5124C>T rs145417594 0.00286
NM_005359.6(SMAD4):c.*4867dup rs571773833 0.00286
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_000112.4(SLC26A2):c.*3507T>A rs180966130 0.00285
NM_001365308.1(BMPER):c.*1163C>T rs144812459 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492 0.00285
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00284
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00284
NM_133433.4(NIPBL):c.-312T>A rs540966156 0.00284
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00283
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_001109878.2(TBX22):c.-23A>G rs147593294 0.00280
NM_005359.6(SMAD4):c.*2968del rs574286440 0.00280
NM_032520.5(GNPTG):c.*68G>T rs60000415 0.00280
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00279
NM_153717.3(EVC):c.*2692G>T rs149155153 0.00279
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_003839.4(TNFRSF11A):c.*2077G>T rs75853662 0.00278
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys) rs144288263 0.00277
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_058172.6(ANTXR2):c.*5223G>T rs192983822 0.00277
NM_003193.5(TBCE):c.1400-14T>C rs150827657 0.00276
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00274
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_000900.5(MGP):c.*538C>G rs139069321 0.00273
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042 0.00273
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406 0.00272
NM_003659.4(AGPS):c.*4255T>G rs190967028 0.00272
NM_001143985.1(BANF1):c.-297G>A rs141605220 0.00271
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490 0.00271
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464 0.00265
NM_001287.6(CLCN7):c.*1572C>T rs539134149 0.00264
NM_153717.3(EVC):c.*491C>T rs114993332 0.00264
NM_006371.5(CRTAP):c.*1041C>T rs114487086 0.00263
NM_022039.4(FBXW4):c.*453C>T rs570558261 0.00263
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00262
NM_025237.3(SOST):c.-10G>A rs190743758 0.00262
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) rs200349173 0.00261
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00261
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_000112.4(SLC26A2):c.*205G>A rs115383424 0.00260
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00260
NM_005529.7(HSPG2):c.*391G>A rs146732517 0.00260
NM_000900.5(MGP):c.115A>C (p.Asn39His) rs145210821 0.00259
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00259
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00259
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00259
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006 0.00257
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=) rs181182663 0.00256
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00255
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00253
NM_005708.5(GPC6):c.1341C>T (p.Pro447=) rs140196319 0.00253
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00252
NM_000088.4(COL1A1):c.*1088G>A rs191326459 0.00250
NM_001127671.2(LIFR):c.*5125C>T rs147202739 0.00250
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=) rs149367044 0.00249
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00248
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00247
NM_182760.4(SUMF1):c.*445A>G rs114640216 0.00247
NM_001017995.3(SH3PXD2B):c.*235T>C rs147011482 0.00246
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_012434.5(SLC17A5):c.*1492C>G rs148144074 0.00245
NM_000493.4(COL10A1):c.*833T>C rs186945460 0.00244
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_006129.5(BMP1):c.2154C>T (p.Cys718=) rs61729095 0.00243
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) rs200811852 0.00242
NM_012463.4(ATP6V0A2):c.*785T>C rs146660715 0.00242
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_006371.5(CRTAP):c.*31C>T rs149138748 0.00240
NM_025237.3(SOST):c.*1391G>C rs144304911 0.00239
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_014762.4(DHCR24):c.1020+11G>A rs555618086 0.00238
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344 0.00237
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481 0.00236
NM_198525.3(KIF7):c.*37G>A rs147387691 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00235
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) rs35232945 0.00235
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00235
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_006371.5(CRTAP):c.*2524G>A rs150800828 0.00234
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00234
NM_031296.3(RAB33B):c.*1751G>T rs114169513 0.00234
NM_005373.3(MPL):c.*364C>T rs138892634 0.00233
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_014762.4(DHCR24):c.*718G>A rs74072035 0.00232
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) rs34063250 0.00231
NM_022039.4(FBXW4):c.*233G>T rs535051082 0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00230
NM_080680.3(COL11A2):c.*4C>T rs186720023 0.00230
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_000112.4(SLC26A2):c.*443T>C rs115977282 0.00228
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00228
NM_001127671.2(LIFR):c.*398C>G rs138772371 0.00227
NM_001361.5(DHODH):c.294C>T (p.Asp98=) rs61747639 0.00227
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00227
NM_014762.4(DHCR24):c.*2084G>A rs74072034 0.00226
NM_006031.6(PCNT):c.7495-13A>G rs114588443 0.00224
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00222
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00221
NM_014028.4(OSTM1):c.615+8A>G rs144204437 0.00220
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994 0.00220
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00219
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00219
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_004530.6(MMP2):c.1802G>T (p.Gly601Val) rs142010233 0.00217
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00217
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00216
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109 0.00216
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00215
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_014140.4(SMARCAL1):c.*30T>G rs186052380 0.00215
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) rs74026937 0.00212
NM_031296.2(RAB33B):c.-164G>A rs76593161 0.00212
NM_000428.3(LTBP2):c.*2363A>G rs190461277 0.00211
NM_005529.7(HSPG2):c.3889-10G>A rs147334960 0.00211
NM_021926.4(ALX4):c.*2349C>A rs139570599 0.00210
NM_198239.2(CCN6):c.77C>T (p.Pro26Leu) rs149609367 0.00210
NM_024312.5(GNPTAB):c.571+12T>C rs112056979 0.00207
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_001854.4(COL11A1):c.4140+13T>A rs374901069 0.00205
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00205
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00205
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val) rs114383833 0.00204
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=) rs112185875 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301 0.00203
NM_001202.6(BMP4):c.*28A>T rs185647938 0.00202
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_001375808.2(LPIN2):c.*1147A>G rs139015163 0.00201
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00200
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00199
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) rs201032988 0.00198
NM_016277.5(RAB23):c.*1706T>C rs11969200 0.00198
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00197
NM_001017995.3(SH3PXD2B):c.*3989G>A rs114644223 0.00197
NM_001854.4(COL11A1):c.3925-11C>T rs192518657 0.00197
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00197
NM_003722.5(TP63):c.399C>T (p.Pro133=) rs145730343 0.00196
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00196
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00195
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00194
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00194
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_001854.4(COL11A1):c.3384+13T>G rs201970483 0.00192
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00192
NM_004530.6(MMP2):c.*523T>C rs141779983 0.00192
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00192
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00192
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00189
NM_006208.3(ENPP1):c.*3528C>T rs557822175 0.00189
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00188
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00188
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_003722.5(TP63):c.*2477T>G rs186295449 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_001159773.2(CANT1):c.198C>T (p.Pro66=) rs201935694 0.00185
NM_001854.4(COL11A1):c.*1091A>T rs41292523 0.00185
NM_005529.7(HSPG2):c.355-14G>C rs372356869 0.00185
NM_002427.4(MMP13):c.*426A>G rs182315436 0.00182
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00182
NM_005373.3(MPL):c.*1603A>C rs142139493 0.00182
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00182
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_005373.3(MPL):c.*1180G>A rs117166528 0.00181
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830 0.00181
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00178
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00177
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974 0.00176
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_005373.3(MPL):c.*1116G>A rs144177827 0.00175
NM_198239.2(CCN6):c.91C>A (p.Pro31Thr) rs145590972 0.00175
NM_001235.5(SERPINH1):c.*117G>A rs184623179 0.00174
NM_000434.4(NEU1):c.*445T>G rs113824527 0.00173
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_001011658.4(TRAPPC2):c.*849C>T rs112880750 0.00172
NM_001017995.3(SH3PXD2B):c.*789T>A rs150961242 0.00172
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00172
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=) rs139127426 0.00171
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000112.4(SLC26A2):c.*4659G>T rs143908264 0.00169
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_014694.4(ADAMTSL2):c.387G>A (p.Thr129=) rs146802900 0.00168
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_001017995.3(SH3PXD2B):c.*957C>T rs79360524 0.00167
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_000110.4(DPYD):c.1525-11G>A rs55699321 0.00166
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00166
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601 0.00165
NM_001854.4(COL11A1):c.3024+13T>C rs201141572 0.00165
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_203486.3(DLL3):c.618C>T (p.Pro206=) rs192624990 0.00165
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 0.00164
NC_000007.14:g.148807371T>C rs543537882 0.00163
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_001361.5(DHODH):c.72C>T (p.Phe24=) rs61753576 0.00163
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_004239.4(TRIP11):c.5056+11C>T rs199549473 0.00161
NM_006019.4(TCIRG1):c.630+14G>A rs201531306 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00159
NM_001109878.2(TBX22):c.356+6G>C rs373965779 0.00159
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_003722.5(TP63):c.*2123C>T rs36064124 0.00159
NM_006031.6(PCNT):c.-25G>C rs202239640 0.00159
NM_014762.4(DHCR24):c.*2200G>A rs558575804 0.00159
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_031296.3(RAB33B):c.*513C>T rs4131797 0.00158
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764 0.00158
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224 0.00157
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) rs35852786 0.00156
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525 0.00156
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00155
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00154
NM_003659.4(AGPS):c.1233+14T>A rs60463897 0.00154
NM_004530.6(MMP2):c.*453C>G rs562314074 0.00154
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00154
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_002334.4(LRP4):c.*2054C>T rs151112380 0.00152
NM_000135.4(FANCA):c.*654C>T rs17227438 0.00151
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) rs138036524 0.00151
NM_006031.6(PCNT):c.6125G>A (p.Arg2042His) rs149264703 0.00151
NM_058172.6(ANTXR2):c.*242A>G rs139631974 0.00151
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_014694.4(ADAMTSL2):c.279G>A (p.Thr93=) rs62637570 0.00150
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00150
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=) rs111389121 0.00148
NM_014762.4(DHCR24):c.*2554C>T rs144220338 0.00148
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00145
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_031296.3(RAB33B):c.*576T>C rs4131798 0.00144
NM_001159773.2(CANT1):c.*1794T>G rs192546263 0.00143
NM_014028.4(OSTM1):c.*2366A>G rs564822548 0.00143
NM_000316.3(PTH1R):c.-37G>A rs201663714 0.00142
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892 0.00142
NM_030957.4(ADAMTS10):c.1588-11C>T rs112970413 0.00142
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_006129.5(BMP1):c.1443+12G>C rs181328614 0.00140
NM_000112.4(SLC26A2):c.*1970G>T rs147208348 0.00139
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) rs114300046 0.00139
NM_004560.4(ROR2):c.*927C>T rs150568265 0.00138
NM_005373.3(MPL):c.*573G>A rs192016153 0.00138
NM_021926.4(ALX4):c.*899C>T rs543627488 0.00138
NM_001375808.2(LPIN2):c.*2076C>A rs112529707 0.00137
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) rs150250100 0.00137
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu) rs147489278 0.00135
NM_005857.5(ZMPSTE24):c.*1240A>G rs181730348 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_058172.6(ANTXR2):c.*3649T>A rs147800526 0.00134
NM_005373.3(MPL):c.*748C>T rs190071085 0.00133
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_005529.7(HSPG2):c.*593C>T rs575020789 0.00132
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=) rs184413338 0.00131
NC_000019.10:g.18782760C>G rs537572167 0.00130
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777 0.00130
NM_002855.5(NECTIN1):c.*2884G>A rs115594822 0.00130
NM_003839.4(TNFRSF11A):c.284-5C>T rs371545302 0.00130
NM_182760.4(SUMF1):c.*836C>G rs140229372 0.00129
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00128
NM_001361.5(DHODH):c.765C>T (p.Ile255=) rs61757214 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_004530.6(MMP2):c.*212C>T rs147506379 0.00127
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00125
NM_000095.3(COMP):c.-9G>T rs186562511 0.00123
NM_004273.5(CHST3):c.*7C>T rs202242499 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu) rs148616786 0.00122
NM_005445.4(SMC3):c.-74C>A rs376252081 0.00122
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909 0.00121
NM_001375808.2(LPIN2):c.*1077C>G rs563088438 0.00121
NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu) rs114972093 0.00121
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile) rs41459945 0.00119
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser) rs201280938 0.00118
NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=) rs3795991 0.00118
NM_054027.6(ANKH):c.*3336_*3339del rs377752827 0.00118
NM_006208.3(ENPP1):c.*1307T>G rs189263683 0.00117
NM_006208.3(ENPP1):c.*4015G>A rs531152298 0.00116
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_133468.5(BMPER):c.-362C>A rs144748548 0.00113
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00112
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00111
NM_014028.4(OSTM1):c.495A>G (p.Thr165=) rs137974384 0.00111
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_001159773.2(CANT1):c.*157G>A rs117904862 0.00109
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00109
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00109
NM_021926.4(ALX4):c.*3805G>A rs373307279 0.00108
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met) rs141463861 0.00108
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00106
NM_002381.5(MATN3):c.1171C>T (p.Arg391Cys) rs146599945 0.00106
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00106
NM_153717.3(EVC):c.*2493A>G rs188345323 0.00106
NM_198239.2(CCN6):c.327C>T (p.Tyr109=) rs145747429 0.00106
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00105
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_001375808.2(LPIN2):c.*850G>A rs73375250 0.00104
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00104
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_139057.4(ADAMTS17):c.*960G>A rs180868548 0.00101
NM_006129.5(BMP1):c.941G>A (p.Arg314His) rs538263166 0.00100
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_001017995.3(SH3PXD2B):c.*843G>A rs143482443 0.00099
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) rs139823051 0.00099
NM_006208.3(ENPP1):c.*804A>G rs114078048 0.00098
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00097
NM_030957.4(ADAMTS10):c.1798-6C>T rs186791828 0.00097
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_006371.5(CRTAP):c.*1124C>A rs570473174 0.00096
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_016277.5(RAB23):c.*677T>C rs375855440 0.00093
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00092
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00092
NM_004530.6(MMP2):c.496G>A (p.Glu166Lys) rs147947052 0.00092
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_002734.5(PRKAR1A):c.*847A>G rs144299673 0.00091
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00090
NM_153717.3(EVC):c.*1314G>A rs567979829 0.00090
NM_153717.3(EVC):c.*492G>A rs530991301 0.00090
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln) rs36004037 0.00089
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_014112.5(TRPS1):c.*2537del rs570702506 0.00088
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00087
NM_153281.2(HYAL1):c.-241C>A rs12631938 0.00087
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_002381.5(MATN3):c.945C>T (p.His315=) rs77146641 0.00086
NM_016277.5(RAB23):c.*3189T>C rs139222657 0.00086
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00085
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552 0.00082
NM_153717.3(EVC):c.*1976C>T rs56333422 0.00082
NM_000168.6(GLI3):c.*3309C>A rs553151369 0.00081
NM_004239.4(TRIP11):c.*290A>G rs189206458 0.00081
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_001174147.2(LMX1B):c.*38G>A rs201442685 0.00080
NM_001287.6(CLCN7):c.*1452G>A rs578092313 0.00080
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro) rs147552663 0.00080
NM_006208.3(ENPP1):c.*150G>A rs571779819 0.00080
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00080
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00079
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00079
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00078
NM_001127671.2(LIFR):c.*4154A>G rs73077448 0.00077
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005 0.00074
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00072
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_014762.4(DHCR24):c.*393G>A rs146650872 0.00071
NM_023110.3(FGFR1):c.-338T>G rs527518565 0.00071
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_153717.3(EVC):c.*994C>T rs547970729 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_001109878.2(TBX22):c.1090C>T (p.Leu364=) rs147281246 0.00070
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_000046.5(ARSB):c.*2243A>G rs145585943 0.00069
NM_182943.3(PLOD2):c.*848G>A rs183566908 0.00069
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00068
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00068
NM_005529.7(HSPG2):c.5702-13G>A rs141464854 0.00068
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00068
NC_000009.12:g.21802632T>C rs545625466 0.00067
NM_000493.4(COL10A1):c.256G>A (p.Gly86Arg) rs145214720 0.00067
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_003701.4(TNFSF11):c.-141C>T rs45468495 0.00067
NM_012434.5(SLC17A5):c.*799T>C rs529408804 0.00067
NM_139057.4(ADAMTS17):c.-9C>T rs192272127 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00066
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00066
NM_139057.4(ADAMTS17):c.*2747T>G rs183457005 0.00066
NM_003193.5(TBCE):c.*108A>G rs78867315 0.00065
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00064
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_003722.5(TP63):c.*471A>T rs144018872 0.00064
NM_005708.5(GPC6):c.*4169A>C rs528405141 0.00064
NM_014762.4(DHCR24):c.*480C>T rs576670614 0.00064
NM_021926.4(ALX4):c.1035C>T (p.Ser345=) rs140652481 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_000165.5(GJA1):c.*498G>A rs575593821 0.00063
NM_001127671.2(LIFR):c.*2712C>T rs547688841 0.00063
NM_001361.5(DHODH):c.*1088T>C rs567852382 0.00063
NM_001852.4(COL9A2):c.-43G>A rs373454857 0.00062
NM_003352.8(SUMO1):c.-32T>G rs182338962 0.00062
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00062
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00061
NM_014762.4(DHCR24):c.*731T>C rs116289873 0.00060
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00060
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00060
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00059
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_000168.6(GLI3):c.*2620C>G rs56158069 0.00058
NM_001375808.2(LPIN2):c.*158G>A rs547872442 0.00058
NM_014028.4(OSTM1):c.*3192A>C rs185905869 0.00058
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00058
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00057
NM_001143985.1(BANF1):c.-408C>T rs117774800 0.00057
NM_000900.5(MGP):c.207T>C (p.Asn69=) rs186013880 0.00056
NM_001375808.2(LPIN2):c.*2103G>A rs561577089 0.00056
NM_005373.3(MPL):c.*94C>A rs77858532 0.00056
NM_012434.5(SLC17A5):c.*1630G>T rs141885984 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00056
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_000428.3(LTBP2):c.*945T>C rs374130664 0.00054
NM_001375808.2(LPIN2):c.*151G>A rs571000282 0.00054
NM_001852.4(COL9A2):c.304-14C>T rs180908956 0.00054
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00054
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00054
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00053
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00052
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp) rs371907380 0.00052
NM_021926.4(ALX4):c.917C>T (p.Pro306Leu) rs149897209 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) rs368080609 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001844.5(COL2A1):c.*28C>T rs41272775 0.00051
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_001104631.2(PDE4D):c.*4675G>A rs536451907 0.00050
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_020297.4(ABCC9):c.2862C>T (p.Asp954=) rs2291550 0.00050
NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu) rs758148689 0.00050
NM_001017995.3(SH3PXD2B):c.*2538T>C rs114974765 0.00049
NM_203486.3(DLL3):c.1356C>T (p.Val452=) rs554268445 0.00049
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=) rs375617316 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_005529.7(HSPG2):c.*1018A>C rs529474269 0.00047
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047
NM_133433.4(NIPBL):c.5709+4G>A rs370325589 0.00047
NM_001017995.3(SH3PXD2B):c.*958G>A rs76230855 0.00046
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) rs147056081 0.00046
NM_031296.3(RAB33B):c.*2722T>G rs539470441 0.00046
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_000488.4(SERPINC1):c.678C>T (p.Thr226=) rs2227627 0.00045
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00045
NM_054027.6(ANKH):c.*2243C>T rs531980160 0.00045
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333 0.00045
NM_001202.6(BMP4):c.-155G>A rs540859284 0.00044
NM_003659.4(AGPS):c.*3073A>G rs532442888 0.00044
NM_005529.7(HSPG2):c.*623C>G rs538032437 0.00044
NM_014762.4(DHCR24):c.639C>T (p.Ala213=) rs143779194 0.00044
NM_153717.3(EVC):c.*2125T>G rs139771274 0.00044
NM_003722.5(TP63):c.*627T>C rs184452906 0.00043
NM_001287.6(CLCN7):c.350C>T (p.Thr117Met) rs201003681 0.00042
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu) rs200290031 0.00042
NM_022039.4(FBXW4):c.*204G>A rs185181909 0.00042
NM_022455.5(NSD1):c.*3098dup rs145155077 0.00042
NM_152419.3(HGSNAT):c.*106G>A rs186881132 0.00042
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00041
NM_003193.5(TBCE):c.1492-14C>T rs147400126 0.00041
NM_005708.5(GPC6):c.*126G>C rs117059477 0.00041
NM_006129.5(BMP1):c.433+12A>G rs201334369 0.00041
NM_021926.4(ALX4):c.728C>T (p.Ala243Val) rs145166164 0.00041
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_000095.3(COMP):c.360C>T (p.Gly120=) rs150820366 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_054027.6(ANKH):c.*1948_*1949del rs527743958 0.00040
NM_001017420.3(ESCO2):c.*96C>T rs118103454 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg) rs201827977 0.00039
NM_014762.4(DHCR24):c.-62G>A rs537895939 0.00039
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00039
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00038
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798 0.00038
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=) rs149917909 0.00038
NM_001854.4(COL11A1):c.*809C>T rs143875783 0.00038
NM_014112.5(TRPS1):c.2701-9_2701-8del rs368655299 0.00038
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_182760.4(SUMF1):c.*949G>A rs575414528 0.00038
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00037
NM_003860.4(BANF1):c.*273C>G rs142270527 0.00037
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00036
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00036
NM_001104631.1(PDE4D):c.-126A>G rs543720951 0.00036
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00036
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00036
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_000493.4(COL10A1):c.*291C>T rs550887467 0.00035
NM_001287.6(CLCN7):c.*89C>T rs372232215 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_000127.3(EXT1):c.-642G>A rs534171475 0.00034
NM_000316.3(PTH1R):c.375G>A (p.Glu125=) rs138339848 0.00034
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_000460.4(THPO):c.*18G>A rs180680111 0.00034
NM_001017995.3(SH3PXD2B):c.*171G>A rs187872276 0.00034
NM_001017995.3(SH3PXD2B):c.*2666G>T rs150647285 0.00034
NM_003995.4(NPR2):c.2047+11C>T rs200583592 0.00034
NM_016277.5(RAB23):c.*984G>A rs148372304 0.00034
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_000376.3(VDR):c.1206C>A (p.Arg402=) rs2229829 0.00033
NM_001011658.4(TRAPPC2):c.*710T>C rs141763219 0.00033
NM_006208.3(ENPP1):c.*2698G>A rs146550172 0.00033
NM_014780.4(CUL7):c.-272C>T rs754072990 0.00033
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) rs200417841 0.00033
NM_021926.4(ALX4):c.1182G>A (p.Ala394=) rs149365713 0.00033
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00032
NM_001854.4(COL11A1):c.*687C>T rs186072680 0.00032
NM_005445.4(SMC3):c.*17A>G rs199611616 0.00032
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00032
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00032
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00032
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00031
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00031
NM_001844.5(COL2A1):c.3327+3G>A rs192229438 0.00031
NM_001852.4(COL9A2):c.1162-3C>T rs368209124 0.00031
NM_014028.4(OSTM1):c.300G>T (p.Gly100=) rs199570880 0.00031
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00031
NM_014236.4(GNPAT):c.1308G>A (p.Pro436=) rs151138534 0.00031
NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu) rs532195262 0.00031
NM_023110.3(FGFR1):c.*1822A>C rs570038633 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00030
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) rs536281306 0.00030
NM_015311.3(OBSL1):c.5308+12T>G rs377219196 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00029
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_001011658.4(TRAPPC2):c.*1050C>T rs184686872 0.00029
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=) rs138949427 0.00029
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly) rs767584572 0.00029
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His) rs147793515 0.00029
NM_032520.5(GNPTG):c.*27C>T rs189677035 0.00029
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00029
NM_207122.2(EXT2):c.1806+11G>A rs372517964 0.00029
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00028
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=) rs41317725 0.00028
NM_001199397.3(NEK1):c.*1222T>G rs543801862 0.00028
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00028
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00028
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) rs75832955 0.00028
NM_003995.4(NPR2):c.2643+10A>G rs200486126 0.00028
NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly) rs546399681 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00027
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426 0.00027
NM_001375808.2(LPIN2):c.*2390C>T rs555969171 0.00027
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00027
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00027
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr) rs185151361 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_003722.5(TP63):c.*2625A>T rs35694511 0.00026
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=) rs200388590 0.00026
NM_004560.4(ROR2):c.751C>T (p.Leu251=) rs368471121 0.00026
NM_014780.4(CUL7):c.-298C>G rs369727378 0.00026
NM_015311.3(OBSL1):c.851G>A (p.Arg284His) rs200780633 0.00026
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266 0.00026
NM_054027.6(ANKH):c.*695_*698dup rs555469650 0.00026
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777 0.00026
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_001202.6(BMP4):c.*251C>T rs573118445 0.00025
NM_001361.5(DHODH):c.*252C>T rs147792232 0.00025
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998 0.00025
NM_005529.7(HSPG2):c.9411C>T (p.Ala3137=) rs533824462 0.00025
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_014762.4(DHCR24):c.*944C>T rs79299252 0.00025
NM_058172.6(ANTXR2):c.1179+3T>C rs199610196 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_000428.3(LTBP2):c.*1427A>G rs187052141 0.00024
NM_001174147.2(LMX1B):c.*13C>T rs375458623 0.00024
NM_001287.6(CLCN7):c.*1685G>A rs376387077 0.00024
NM_004530.6(MMP2):c.1769+10G>A rs201956873 0.00024
NM_022039.4(FBXW4):c.1235+13T>G rs193073481 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312 0.00023
NM_004530.6(MMP2):c.51C>T (p.Leu17=) rs41503347 0.00023
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_005708.5(GPC6):c.10T>A (p.Trp4Arg) rs200925249 0.00023
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn) rs200303861 0.00023
NM_012463.4(ATP6V0A2):c.*2485C>T rs144043973 0.00023
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) rs765231166 0.00023
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00023
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile) rs190614894 0.00023
NM_203486.3(DLL3):c.*38A>G rs200982994 0.00023
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00023
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00022
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611 0.00022
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg) rs142151614 0.00022
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00022
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00022
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969 0.00021
NM_001109878.2(TBX22):c.240C>T (p.Tyr80=) rs145373371 0.00021
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) rs77287119 0.00021
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala) rs143070839 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_054027.6(ANKH):c.*2974G>A rs182073449 0.00021
NM_080680.3(COL11A2):c.*925G>A rs117470046 0.00021
NM_080680.3(COL11A2):c.1873-14A>G rs149099562 0.00021
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00021
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00021
NM_152281.3(GORAB):c.663-12A>G rs201410218 0.00021
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00020
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00020
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00020
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_000444.6(PHEX):c.1483-7T>C rs369175587 0.00020
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=) rs145794847 0.00020
NM_002381.5(MATN3):c.733G>A (p.Val245Met) rs182164052 0.00020
NM_005373.3(MPL):c.*1486T>C rs149940158 0.00020
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_000095.3(COMP):c.868-4C>T rs529806631 0.00019
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00019
NM_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_001127671.2(LIFR):c.*3851T>A rs78474283 0.00019
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_002615.7(SERPINF1):c.756C>A (p.Arg252=) rs144006481 0.00019
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=) rs191561981 0.00019
NM_018965.4(TREM2):c.*48A>T rs200820365 0.00019
NM_020638.3(FGF23):c.*1398T>A rs531815578 0.00019
NM_020638.3(FGF23):c.*998C>G rs71583766 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483 0.00019
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
NM_139057.4(ADAMTS17):c.*959C>T rs141144986 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267 0.00018
NM_006031.6(PCNT):c.9394-3T>C rs545618955 0.00018
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00017
NM_000095.3(COMP):c.410T>C (p.Phe137Ser) rs757094319 0.00017
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) rs200733697 0.00017
NM_001199397.3(NEK1):c.-504T>C rs550632789 0.00017
NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=) rs115173390 0.00017
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00016
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596 0.00016
NM_001174147.2(LMX1B):c.1152C>T (p.Arg384=) rs146476348 0.00016
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641 0.00016
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338 0.00016
NM_001793.6(CDH3):c.*142C>T rs571959258 0.00016
NM_001852.4(COL9A2):c.*561A>G rs138560646 0.00016
NM_003659.4(AGPS):c.157C>T (p.Leu53=) rs77810072 0.00016
NM_003900.5(SQSTM1):c.*66A>C rs140407570 0.00016
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270 0.00016
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp) rs376189812 0.00016
NM_006031.6(PCNT):c.6150+3G>A rs760779996 0.00016
NM_021926.4(ALX4):c.1149C>T (p.Asn383=) rs376675326 0.00016
NM_021926.4(ALX4):c.188G>A (p.Arg63Gln) rs372830230 0.00016
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735 0.00016
NM_207122.2(EXT2):c.*129C>G rs141864253 0.00016
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00015
NM_000168.6(GLI3):c.*2347C>A rs138209843 0.00015
NM_000942.5(PPIB):c.85G>A (p.Gly29Arg) rs200307684 0.00015
NM_001109878.2(TBX22):c.799-13A>G rs188139172 0.00015
NM_001194998.2(CEP152):c.*255T>C rs187213125 0.00015
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00015
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
NM_003995.4(NPR2):c.1633-10C>A rs201550050 0.00015
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00015
NM_014028.4(OSTM1):c.198A>G (p.Gly66=) rs565610194 0.00015
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00015
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_080680.3(COL11A2):c.*822C>G rs536130072 0.00015
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 0.00015
NM_173841.2(IL1RN):c.*1156T>C rs140343304 0.00015
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=) rs369434464 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000308.4(CTSA):c.1036G>A (p.Val346Met) rs137941635 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_002546.4(TNFRSF11B):c.21C>T (p.Cys7=) rs373330021 0.00014
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=) rs182418174 0.00014
NM_005996.4(TBX3):c.1250A>G (p.His417Arg) rs375076522 0.00014
NM_005996.4(TBX3):c.1790C>T (p.Ala597Val) rs200821102 0.00014
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279 0.00014
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00014
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) rs74589174 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 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_000127.3(EXT1):c.1749G>C (p.Gln583His) rs575895733 0.00013
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00013
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00013
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947 0.00013
NM_001017420.3(ESCO2):c.*397A>G rs529251667 0.00013
NM_001287.6(CLCN7):c.286-9G>T rs200321142 0.00013
NM_001365308.1(BMPER):c.*1605C>T rs138630544 0.00013
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592 0.00013
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00013
NM_002427.4(MMP13):c.951T>G (p.Asp317Glu) rs367612153 0.00013
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00013
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418 0.00013
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00013
NM_006031.6(PCNT):c.5724G>A (p.Gln1908=) rs199519762 0.00013
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340 0.00013
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000404.4(GLB1):c.-48G>C rs529551028 0.00012
NM_001854.4(COL11A1):c.4140+13del rs781736900 0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_006306.4(SMC1A):c.*2589A>G rs782291666 0.00012
NM_021926.4(ALX4):c.217C>T (p.Leu73=) rs766525768 0.00012
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950 0.00012
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln) rs199769798 0.00012
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000168.6(GLI3):c.*185G>A rs531678760 0.00011
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001109878.2(TBX22):c.1169C>A (p.Ala390Asp) rs141303126 0.00011
NM_001361.5(DHODH):c.*14C>T rs370049658 0.00011
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His) rs199897562 0.00011
NM_002427.4(MMP13):c.472G>A (p.Asp158Asn) rs181426884 0.00011
NM_003722.5(TP63):c.699A>G (p.Lys233=) rs199727371 0.00011
NM_003839.4(TNFRSF11A):c.1567+7G>A rs35332936 0.00011
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_005373.3(MPL):c.*1674A>T rs536844021 0.00011
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
NM_005461.5(MAFB):c.368G>C (p.Ser123Thr) rs767671011 0.00011
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys) rs562419349 0.00011
NM_021926.4(ALX4):c.*563C>T rs574340639 0.00011
NM_023110.3(FGFR1):c.*494A>G rs562843836 0.00011
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025237.3(SOST):c.56G>A (p.Arg19His) rs199514554 0.00011
NM_058216.3(RAD51C):c.*25C>G rs28363336 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_133433.4(NIPBL):c.4776+12G>A rs199632698 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_198239.2(CCN6):c.131G>A (p.Arg44His) rs782703789 0.00011
NM_207122.2(EXT2):c.*139C>G rs191451519 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00010
NM_001361.5(DHODH):c.*1174T>G rs148338434 0.00010
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00010
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00010
NM_080680.3(COL11A2):c.4080G>A (p.Gly1360=) rs537455619 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_000089.4(COL1A2):c.2025+9A>G rs368837694 0.00009
NM_000095.3(COMP):c.2213G>A (p.Arg738His) rs766913050 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_001024630.4(RUNX2):c.887C>T (p.Pro296Leu) rs201584115 0.00009
NM_001174147.2(LMX1B):c.*2739C>A rs145602359 0.00009
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467 0.00009
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_003722.5(TP63):c.*2318G>A rs199834330 0.00009
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00009
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385 0.00009
NM_004560.4(ROR2):c.744G>A (p.Pro248=) rs757948078 0.00009
NM_005445.4(SMC3):c.970-14T>C rs200511874 0.00009
NM_005529.7(HSPG2):c.3197G>A (p.Arg1066Gln) rs537872144 0.00009
NM_006031.6(PCNT):c.9279G>A (p.Ser3093=) rs199596313 0.00009
NM_021926.4(ALX4):c.*407G>A rs539799951 0.00009
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_152281.3(GORAB):c.719G>A (p.Arg240His) rs149924639 0.00009
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00009
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000135.4(FANCA):c.3935-6T>C rs368376237 0.00008
NM_001011658.4(TRAPPC2):c.93+7A>G rs374796724 0.00008
NM_001174147.2(LMX1B):c.19C>G (p.Pro7Ala) rs767281663 0.00008
NM_002296.4(LBR):c.367-7A>T rs144956313 0.00008
NM_003722.5(TP63):c.84T>G (p.His28Gln) rs370716448 0.00008
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00008
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) rs556207267 0.00008
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) rs150534218 0.00007
NM_000095.3(COMP):c.924C>T (p.Ile308=) rs199596155 0.00007
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys) rs150818931 0.00007
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00007
NM_000168.6(GLI3):c.*2276T>C rs568393106 0.00007
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00007
NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) rs372115732 0.00007
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00007
NM_001852.4(COL9A2):c.185C>T (p.Pro62Leu) rs767523458 0.00007
NM_002381.5(MATN3):c.279C>T (p.Ser93=) rs370980605 0.00007
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_006306.4(SMC1A):c.*2540C>G rs182535846 0.00007
NM_006371.5(CRTAP):c.*1861A>G rs553553619 0.00007
NM_015311.3(OBSL1):c.-12T>C rs781320979 0.00007
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala) rs555936455 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00007
NC_000018.10:g.51085053C>T rs534182161 0.00006
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=) rs757115396 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser) rs200913720 0.00006
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832 0.00006
NM_000288.4(PEX7):c.*115A>G rs41288967 0.00006
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872 0.00006
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850 0.00006
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698 0.00006
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00006
NM_001174147.2(LMX1B):c.381C>T (p.Phe127=) rs540034621 0.00006
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_002449.5(MSX2):c.*1206T>C rs77229212 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr) rs763096294 0.00006
NM_003722.5(TP63):c.*379T>A rs192879052 0.00006
NM_003722.5(TP63):c.1707G>A (p.Gly569=) rs202009057 0.00006
NM_004560.4(ROR2):c.*766T>C rs548573232 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_014762.4(DHCR24):c.*42G>A rs200380515 0.00006
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) rs557890380 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) rs147215221 0.00006
NM_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=) rs398124470 0.00006
NM_139057.4(ADAMTS17):c.3128-6C>T rs148559983 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00005
NM_000112.4(SLC26A2):c.*3918C>T rs192457706 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000168.6(GLI3):c.480C>T (p.Ser160=) rs148660482 0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00005
NM_000460.4(THPO):c.852G>A (p.Leu284=) rs150122652 0.00005
NM_001024630.4(RUNX2):c.176A>G (p.Gln59Arg) rs779943223 0.00005
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=) rs369906474 0.00005
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr) rs749222606 0.00005
NM_001852.4(COL9A2):c.230A>C (p.Asp77Ala) rs200737977 0.00005
NM_001852.4(COL9A2):c.847-9G>A rs201625720 0.00005
NM_001854.4(COL11A1):c.*1227T>A rs538679983 0.00005
NM_002010.3(FGF9):c.420C>T (p.Phe140=) rs765041263 0.00005
NM_002381.5(MATN3):c.349C>T (p.Pro117Ser) rs563628955 0.00005
NM_002449.5(MSX2):c.*46G>T rs375964205 0.00005
NM_002451.4(MTAP):c.788G>T (p.Trp263Leu) rs373274501 0.00005
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 0.00005
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) rs1163121743 0.00005
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp) rs557931141 0.00005
NM_003839.4(TNFRSF11A):c.*938T>C rs565315471 0.00005
NM_004560.4(ROR2):c.*521G>A rs147339603 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_012463.4(ATP6V0A2):c.*2085C>G rs185883563 0.00005
NM_014112.5(TRPS1):c.-470T>C rs567007790 0.00005
NM_014694.4(ADAMTSL2):c.310-10C>T rs571169702 0.00005
NM_020754.4(ARHGAP31):c.*466C>T rs116944967 0.00005
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00005
NM_021926.4(ALX4):c.*196C>T rs189945537 0.00005
NM_022039.4(FBXW4):c.*3G>A rs777074009 0.00005
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00005
NM_024529.5(CDC73):c.*3063G>A rs182545034 0.00005
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) rs548592690 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_207122.2(EXT2):c.849C>T (p.Leu283=) rs749093709 0.00005
NM_207122.2(EXT2):c.8C>T (p.Ala3Val) rs201185639 0.00005
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00004
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_000168.6(GLI3):c.*2071C>T rs539931592 0.00004
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.3119A>T (p.Glu1040Val) rs376477553 0.00004
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) rs369926331 0.00004
NM_000168.6(GLI3):c.963C>T (p.Leu321=) rs34965132 0.00004
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054 0.00004
NM_000444.6(PHEX):c.*48G>A rs765479131 0.00004
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val) rs145003921 0.00004
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_001127671.2(LIFR):c.2497+14T>G rs541984532 0.00004
NM_001174147.2(LMX1B):c.459C>T (p.Gly153=) rs779330478 0.00004
NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) rs377571192 0.00004
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser) rs374627741 0.00004
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594 0.00004
NM_002427.4(MMP13):c.770A>T (p.Asp257Val) rs140993310 0.00004
NM_003722.5(TP63):c.1374A>G (p.Ser458=) rs141794685 0.00004
NM_003722.5(TP63):c.63-1G>C rs200607940 0.00004
NM_003722.5(TP63):c.688G>C (p.Val230Leu) rs201466089 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005373.3(MPL):c.*400C>T rs558390922 0.00004
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_006306.4(SMC1A):c.*3087G>A rs782024964 0.00004
NM_020297.4(ABCC9):c.-11T>C rs72559432 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_022458.4(LMBR1):c.204C>T (p.Leu68=) rs766669976 0.00004
NM_023110.3(FGFR1):c.742G>A (p.Val248Met) rs186746130 0.00004
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu) rs201586136 0.00004
NM_173842.3(IL1RN):c.*1039C>T rs559281814 0.00004
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00004
NC_000010.11:g.110567682G>A rs17127559 0.00003
NC_000018.10:g.51085055C>G rs186324049 0.00003
NM_000088.4(COL1A1):c.*1265C>T rs567249120 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000095.3(COMP):c.1200C>T (p.Gly400=) rs201063220 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
NM_000127.3(EXT1):c.66T>C (p.Tyr22=) rs764093488 0.00003
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00003
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00003
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000434.3(NEU1):c.-76C>G rs566696697 0.00003
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553 0.00003
NM_000493.4(COL10A1):c.1611C>T (p.Thr537=) rs199714647 0.00003
NM_000493.4(COL10A1):c.456T>C (p.Ile152=) rs572738023 0.00003
NM_001011658.4(TRAPPC2):c.*333G>A rs747205131 0.00003
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001852.4(COL9A2):c.1162-7A>G rs557381059 0.00003
NM_001852.4(COL9A2):c.905C>T (p.Pro302Leu) rs369110014 0.00003
NM_002010.3(FGF9):c.283C>G (p.Leu95Val) rs776951218 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002449.5(MSX2):c.-42C>T rs758437365 0.00003
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) rs753621663 0.00003
NM_003722.5(TP63):c.*1464G>T rs571277874 0.00003
NM_003900.5(SQSTM1):c.301+12C>G rs141530539 0.00003
NM_003977.4(AIP):c.573C>T (p.Arg191=) rs781545373 0.00003
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00003
NM_005461.5(MAFB):c.*30C>A rs780982442 0.00003
NM_005529.7(HSPG2):c.2034G>T (p.Gln678His) rs375600124 0.00003
NM_020754.4(ARHGAP31):c.*1533T>C rs567101775 0.00003
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021926.4(ALX4):c.*25C>T rs780898515 0.00003
NM_022039.4(FBXW4):c.1254G>A (p.Thr418=) rs142870264 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val) rs761698657 0.00003
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00003
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938 0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=) rs567785340 0.00003
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1935+11C>G rs764143899 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NC_000010.11:g.110567687G>A rs559499419 0.00002
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00002
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_000493.4(COL10A1):c.1349C>A (p.Thr450Asn) rs374996283 0.00002
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_001024630.4(RUNX2):c.*2479C>A rs540392893 0.00002
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp) rs750666346 0.00002
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489 0.00002
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) rs181422024 0.00002
NM_001174147.2(LMX1B):c.741+14G>A rs527313096 0.00002
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) rs147641113 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_002734.5(PRKAR1A):c.-6-7C>T rs373646911 0.00002
NM_003052.5(SLC34A1):c.123C>T (p.Ile41=) rs759907707 0.00002
NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu) rs372577906 0.00002
NM_003352.8(SUMO1):c.-94G>A rs554078545 0.00002
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048 0.00002
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00002
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340 0.00002
NM_020638.3(FGF23):c.249G>A (p.Val83=) rs753676774 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021926.4(ALX4):c.1218C>T (p.Ala406=) rs745849255 0.00002
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys) rs771456995 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_080680.3(COL11A2):c.-82C>G rs539232957 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831 0.00002
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000095.3(COMP):c.588G>A (p.Val196=) rs201165293 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1562-11A>G rs41293744 0.00001
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly) rs55689343 0.00001
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117 0.00001
NM_000168.6(GLI3):c.367C>T (p.His123Tyr) rs199909375 0.00001
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=) rs755403372 0.00001
NM_000168.6(GLI3):c.4342G>A (p.Val1448Met) rs778526954 0.00001
NM_000168.6(GLI3):c.961C>T (p.Leu321Phe) rs769956877 0.00001
NM_000316.3(PTH1R):c.*7G>A rs199649688 0.00001
NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) rs199670451 0.00001
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340 0.00001
NM_000460.4(THPO):c.310C>A (p.Pro104Thr) rs200191903 0.00001
NM_000493.4(COL10A1):c.1759G>A (p.Gly587Arg) rs770624113 0.00001
NM_000493.4(COL10A1):c.381A>T (p.Gly127=) rs139239316 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_001017995.3(SH3PXD2B):c.*3006C>T rs539299765 0.00001
NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn) rs772632723 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001287.6(CLCN7):c.*1589G>C rs532736933 0.00001
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) rs748511528 0.00001
NM_001854.4(COL11A1):c.-188G>A rs372541219 0.00001
NM_002381.5(MATN3):c.275G>A (p.Arg92His) rs774204299 0.00001
NM_002381.5(MATN3):c.664G>A (p.Val222Met) rs753889985 0.00001
NM_002427.4(MMP13):c.1315+12C>T rs781936267 0.00001
NM_002427.4(MMP13):c.23C>T (p.Ala8Val) rs2276093 0.00001
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn) rs760574628 0.00001
NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr) rs771178295 0.00001
NM_003839.4(TNFRSF11A):c.*2086G>A rs528958493 0.00001
NM_003900.5(SQSTM1):c.*1111G>C rs199887787 0.00001
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001
NM_004836.7(EIF2AK3):c.1307-4T>G rs548802949 0.00001
NM_005373.3(MPL):c.854-3T>C rs201514537 0.00001
NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala) rs775665831 0.00001
NM_005445.4(SMC3):c.3321T>C (p.Gly1107=) rs184870066 0.00001
NM_005816.5(CD96):c.*869G>C rs566078679 0.00001
NM_005996.4(TBX3):c.1233G>A (p.Ala411=) rs148511845 0.00001
NM_005996.4(TBX3):c.1269G>A (p.Ser423=) rs773964538 0.00001
NM_005996.4(TBX3):c.483T>C (p.Cys161=) rs148252329 0.00001
NM_006031.6(PCNT):c.3698A>C (p.Glu1233Ala) rs199787861 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_020638.3(FGF23):c.138A>G (p.Thr46=) rs368115734 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 0.00001
NM_021939.4(FKBP10):c.393G>A (p.Ala131=) rs573350587 0.00001
NM_022039.4(FBXW4):c.1437C>T (p.Ser479=) rs574963392 0.00001
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) rs757854346 0.00001
NM_023110.3(FGFR1):c.*1982A>C rs536000259 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320 0.00001
NM_058172.6(ANTXR2):c.*5425G>A rs568935269 0.00001
NM_080680.3(COL11A2):c.2215-11A>G rs557236389 0.00001
NM_080680.3(COL11A2):c.4231-4C>G rs564087840 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_181486.4(TBX5):c.922C>T (p.Pro308Ser) rs760334883 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.4(ARSB):c.-410_-407delCTAA rs151289643
NM_000059.4(BRCA2):c.-59_-57del rs545321666
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.*88T>A rs1061237
NM_000088.4(COL1A1):c.-98G>A rs574683904
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000095.3(COMP):c.218-6C>G rs534407430
NM_000112.4(SLC26A2):c.*2476T>C rs570682108
NM_000112.4(SLC26A2):c.*4419A>C rs140200789
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715AGTT[2] rs56250966
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000165.5(GJA1):c.*1018_*1021del rs375943953
NM_000165.5(GJA1):c.*772_*773dup rs397698276
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) rs369440387
NM_000168.6(GLI3):c.827-19dup rs200073401
NM_000168.6(GLI3):c.864G>A (p.Pro288=) rs139026838
NM_000316.3(PTH1R):c.449G>A (p.Arg150His) rs73067029
NM_000316.3(PTH1R):c.771C>A (p.Thr257=) rs201016660
NM_000346.4(SOX9):c.*744del rs572140615
NM_000388.4(CASR):c.-378del rs537119483
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000493.4(COL10A1):c.*315dup rs530914126
NM_000493.4(COL10A1):c.*553del rs201240595
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000900.5(MGP):c.62-9del rs11393307
NM_001011658.4(TRAPPC2):c.*1848dup rs200158505
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) rs536952235
NM_001024630.4(RUNX2):c.*1437dup rs147020695
NM_001024630.4(RUNX2):c.234G>A (p.Ala78=) rs886061493
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001104631.2(PDE4D):c.*1200T>A rs577495801
NM_001104631.2(PDE4D):c.*1201A>T rs559220819
NM_001104631.2(PDE4D):c.*1634_*1635dup rs138187044
NM_001104631.2(PDE4D):c.*2242_*2243del rs148755437
NM_001104631.2(PDE4D):c.*496_*500dup rs527630861
NM_001104631.2(PDE4D):c.*793GTTT[3] rs200995197
NM_001104631.2(PDE4D):c.1288-8dup rs143090133
NM_001104631.2(PDE4D):c.758+11C>A rs202215336
NM_001109878.2(TBX22):c.-2-7C>A rs185298778
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001159773.2(CANT1):c.*998G>T rs78037898
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001174147.2(LMX1B):c.*4568C>T rs539011309
NM_001174147.2(LMX1B):c.*634CA[3] rs147813553
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) rs145052881
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.397-15del rs199717920
NM_001235.5(SERPINH1):c.*668A>T rs185499724
NM_001287.6(CLCN7):c.*1144dup rs146690487
NM_001287.6(CLCN7):c.*1619GGT[1] rs143409179
NM_001365308.1(BMPER):c.*975G>A rs181798979
NM_001375808.2(LPIN2):c.*1179G>A rs147362027
NM_001375808.2(LPIN2):c.*2197_*2198del rs55834965
NM_001375808.2(LPIN2):c.*2924del rs148191039
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7540+14G>T rs115273161
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001852.4(COL9A2):c.1323+14C>A rs568467832
NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu) rs202153520
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_002010.3(FGF9):c.*2497del rs148832636
NM_002076.4(GNS):c.*2611dup rs201933913
NM_002296.4(LBR):c.-33C>A rs557283078
NM_002449.5(MSX2):c.*1086dup rs145784193
NM_002451.4(MTAP):c.*1105del rs200216058
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_002734.5(PRKAR1A):c.*172_*175del rs201146882
NM_002734.5(PRKAR1A):c.*1835del rs138320066
NM_002734.5(PRKAR1A):c.*812A>C rs116996069
NM_002834.5(PTPN11):c.*1157ATG[14] rs80269561
NM_002855.5(NECTIN1):c.*5C>G rs142987437
NM_002968.3(SALL1):c.*1112dup rs551203456
NM_002968.3(SALL1):c.*83GCCCC[1] rs374006676
NM_003052.5(SLC34A1):c.1174+9C>T rs752762105
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) rs150592440
NM_003392.7(WNT5A):c.*1452AATATA[4] rs538418882
NM_003659.4(AGPS):c.*1713TGA[1] rs143451487
NM_003659.4(AGPS):c.*4660del rs144602349
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041
NM_003722.5(TP63):c.*2719_*2720del rs574327104
NM_003839.4(TNFRSF11A):c.*1251dup rs150401931
NM_003839.4(TNFRSF11A):c.*320del rs552069161
NM_003839.4(TNFRSF11A):c.*633C>G rs184568614
NM_003839.4(TNFRSF11A):c.*634_*635dup rs142942284
NM_003900.4(SQSTM1):c.-35G>C rs189132632
NM_003900.5(SQSTM1):c.*175TG[8] rs10688915
NM_004239.4(TRIP11):c.*1339dup rs35251290
NM_004273.5(CHST3):c.*1447C>A rs76808415
NM_004273.5(CHST3):c.*1978GT[4] rs150678709
NM_004273.5(CHST3):c.*2126A>C rs7072219
NM_004273.5(CHST3):c.*2349A>C rs4148948
NM_004273.5(CHST3):c.*2718G>A rs115489836
NM_004273.5(CHST3):c.*3090T>A rs76750860
NM_004273.5(CHST3):c.*3701AG[1] rs200054447
NM_004273.5(CHST3):c.*3884A>G rs77908871
NM_004273.5(CHST3):c.-270del rs538907004
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004456.4(EZH2):c.-174dup rs545716282
NM_004456.5(EZH2):c.118-5_118-4del rs3214332
NM_004456.5(EZH2):c.247-15dup rs557474218
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4585GA[1] rs374333786
NM_005359.6(SMAD4):c.*6353del rs573785159
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230
NM_005373.3(MPL):c.*1126A>G rs543250497
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.2268+13A>G rs755422141
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005461.5(MAFB):c.*1520C>G rs148352161
NM_005461.5(MAFB):c.*503TGTC[1] rs201579991
NM_005529.7(HSPG2):c.*825G>C rs151090850
NM_005529.7(HSPG2):c.11671+10C>T rs540252244
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005708.5(GPC6):c.*38A>T rs115454779
NM_005708.5(GPC6):c.*694CT[1] rs10606518
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005996.4(TBX3):c.*1083_*1085del rs557346755
NM_005996.4(TBX3):c.*57T>C rs567138179
NM_005996.4(TBX3):c.881+14_881+17del rs139956231
NM_006019.4(TCIRG1):c.2279TGGGCC[3] (p.760LG[3]) rs199973759
NM_006031.6(PCNT):c.*101T>G rs138450666
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_014028.4(OSTM1):c.*2276C>A rs546976371
NM_014112.5(TRPS1):c.*5300_*5303del rs564851438
NM_014694.4(ADAMTSL2):c.-212dup rs539826426
NM_014762.4(DHCR24):c.*2081G>A rs373752257
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4067-11G>A rs1983211
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) rs529703977
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_021926.4(ALX4):c.*2861C>A rs192487688
NM_021926.4(ALX4):c.*424dup rs113592690
NM_021926.4(ALX4):c.*804AAG[1] rs149719812
NM_022039.4(FBXW4):c.485AGG[6] (p.Glu168del) rs560966094
NM_022039.4(FBXW4):c.822-11C>T rs540055383
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) rs376730383
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_024312.5(GNPTAB):c.*1109GTT[8] rs371050894
NM_024312.5(GNPTAB):c.*888AG[3] rs59855215
NM_024529.5(CDC73):c.*3641G>A rs565579791
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.*3808TTG[1] rs143131672
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.4(ADAMTS10):c.*238dup rs151216219
NM_031296.3(RAB33B):c.*2548T>G rs529499632
NM_032043.3(BRIP1):c.*3114del rs35235448
NM_032520.4(GNPTG):c.-72G>C rs28654239
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_054027.6(ANKH):c.*1887dup rs201158874
NM_054027.6(ANKH):c.*416_*419dup rs142033023
NM_054027.6(ANKH):c.*5136del rs577325072
NM_054027.6(ANKH):c.-291CCG[8] rs531421951
NM_058172.6(ANTXR2):c.*4856C>T rs149098653
NM_080680.3(COL11A2):c.*128C>G rs528560777
NM_080680.3(COL11A2):c.*706G>T rs548143581
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.1818+15G>A rs549588854
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-429del rs376839773
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*19G>A rs201992797
NM_139057.4(ADAMTS17):c.*2157AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2228G>C rs541793251
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*2637C>G rs529849561
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_152419.3(HGSNAT):c.*2802C>G rs187372766
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_181486.4(TBX5):c.*1477_*1480del rs564562667
NM_181486.4(TBX5):c.*836A>C rs537303672
NM_198525.3(KIF7):c.*430dup rs113145397
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796

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