ClinVar Miner

List of variants reported as benign for Familial thoracic aortic aneurysm and aortic dissection

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ClinVar version:
Total variants: 764
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NC_000003.12:g.30605668A>G rs3087465 0.64037
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_005911.6(MAT2A):c.792C>G (p.Arg264=) rs1078004 0.51750
NM_002474.3(MYH11):c.1743T>C (p.Ala581=) rs2272554 0.49695
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_002474.3(MYH11):c.1249-11G>C rs2280764 0.46907
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_019055.6(ROBO4):c.161A>G (p.Gln54Arg) rs59648931 0.34382
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_005902.4(SMAD3):c.*2227G>A rs11638476 0.31592
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_003242.6(TGFBR2):c.95-1332C>T rs17838698 0.30717
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_004612.4(TGFBR1):c.*4578T>G rs1590 0.28501
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_004612.4(TGFBR1):c.*2800G>A rs334349 0.27616
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_002474.3(MYH11):c.2472C>T (p.Ala824=) rs1050113 0.26411
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_004612.4(TGFBR1):c.*2103_*2104insG rs36064078 0.25780
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NC_000003.12:g.30694445G>A rs744751 0.22965
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_005902.4(SMAD3):c.-15G>A rs1061427 0.22024
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_005902.4(SMAD3):c.*2282C>T rs12595334 0.19274
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_002317.7(LOX):c.473G>A (p.Arg158Gln) rs1800449 0.16973
NM_004612.4(TGFBR1):c.*3286G>C rs420549 0.16407
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_003242.6(TGFBR2):c.-128C>G rs2306856 0.10667
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_002474.3(MYH11):c.417C>T (p.Val139=) rs1050111 0.10480
NM_003242.6(TGFBR2):c.*747C>G rs11466531 0.10463
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_006258.4(PRKG1):c.479-9C>T rs45615337 0.08494
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_004612.4(TGFBR1):c.*4489T>C rs7850895 0.07302
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_002474.3(MYH11):c.2079C>T (p.Phe693=) rs34287137 0.06287
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071 0.06148
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=) rs56047641 0.05131
NM_003242.6(TGFBR2):c.*1521G>A rs11466533 0.04903
NM_003242.6(TGFBR2):c.*2085T>A rs11466537 0.04867
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04299
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) rs34997494 0.03846
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_017668.3(NDE1):c.947+7126G>C rs1875184 0.02929
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_019055.6(ROBO4):c.1239A>G (p.Pro413=) rs11820142 0.02519
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_004612.4(TGFBR1):c.*3225G>A rs3739798 0.02363
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_019055.6(ROBO4):c.1687C>T (p.Leu563Phe) rs59946255 0.02242
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_006258.4(PRKG1):c.888T>C (p.Leu296=) rs113994747 0.02057
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_000138.5(FBN1):c.5672-63G>T rs363800 0.01987
NM_019055.6(ROBO4):c.2006G>A (p.Arg669Gln) rs4408324 0.01905
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_019055.6(ROBO4):c.1138C>T (p.Arg380Cys) rs77066875 0.01851
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_006258.4(PRKG1):c.408G>A (p.Pro136=) rs55806342 0.01754
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860 0.01232
NM_005744.5(ARIH1):c.633C>T (p.Cys211=) rs76918861 0.01200
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_002474.3(MYH11):c.3651+5del rs201404398 0.01163
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.01024
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_019055.6(ROBO4):c.957C>T (p.Tyr319=) rs75488833 0.00908
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_005911.6(MAT2A):c.406-19G>A rs114500620 0.00774
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788 0.00558
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_002474.3(MYH11):c.1419G>A (p.Gln473=) rs61734198 0.00535
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=) rs141218982 0.00519
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_017668.3(NDE1):c.948-7059C>G rs148691719 0.00511
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_019055.6(ROBO4):c.2326C>T (p.Arg776Cys) rs138481093 0.00500
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_000138.5(FBN1):c.*1084T>C rs3803350 0.00464
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_053025.4(MYLK):c.652C>T (p.Leu218=) rs113035707 0.00441
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888 0.00440
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_019055.6(ROBO4):c.546C>T (p.Pro182=) rs143174483 0.00381
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_002317.7(LOX):c.225C>G (p.Ala75=) rs2278226 0.00333
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000138.5(FBN1):c.2678-15C>T rs181681840 0.00324
NM_019055.6(ROBO4):c.1817G>A (p.Arg606His) rs149507368 0.00324
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272 0.00312
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp) rs145067866 0.00297
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00289
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449 0.00277
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_005911.6(MAT2A):c.108A>G (p.Gln36=) rs115257622 0.00232
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_005911.6(MAT2A):c.501A>G (p.Leu167=) rs75623534 0.00220
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_005911.6(MAT2A):c.318G>T (p.Val106=) rs72940560 0.00215
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990 0.00207
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_005911.6(MAT2A):c.952-19G>A rs116037832 0.00203
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417 0.00197
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_002474.3(MYH11):c.1848C>T (p.Ala616=) rs112834652 0.00172
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_004612.4(TGFBR1):c.-2C>T rs200224304 0.00149
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_004612.4(TGFBR1):c.1387-14dup rs863223800 0.00145
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00113
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr) rs139646798 0.00109
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_019055.6(ROBO4):c.1458C>T (p.Ala486=) rs74458892 0.00107
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) rs199727625 0.00104
NM_005911.6(MAT2A):c.813T>C (p.Tyr271=) rs149459768 0.00103
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr) rs112657320 0.00093
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) rs150745395 0.00071
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681 0.00070
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152 0.00069
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156 0.00068
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100 0.00067
NM_002474.3(MYH11):c.633+1942T>C rs199755371 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn) rs200315340 0.00061
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_000090.4(COL3A1):c.3202-14del rs767971610 0.00059
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_002474.3(MYH11):c.2649G>A (p.Ser883=) rs150943863 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu) rs534479543 0.00050
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=) rs145853251 0.00048
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768 0.00047
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000138.5(FBN1):c.645A>C (p.Arg215=) rs200062771 0.00043
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000 0.00036
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) rs138423692 0.00036
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933 0.00035
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_002474.3(MYH11):c.1989G>A (p.Lys663=) rs138581000 0.00033
NM_005911.6(MAT2A):c.438T>C (p.Thr146=) rs143610695 0.00033
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267 0.00032
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=) rs111940956 0.00032
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958 0.00032
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) rs35035518 0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387 0.00030
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_012186.3(FOXE3):c.234G>A (p.Ala78=) rs201158701 0.00027
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_005902.4(SMAD3):c.207-11C>T rs148430981 0.00026
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) rs370173604 0.00019
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_002474.3(MYH11):c.6G>A (p.Ala2=) rs762011909 0.00018
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 0.00017
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_002317.7(LOX):c.631+10C>T rs199948468 0.00016
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_001613.4(ACTA2):c.936C>T (p.Ala312=) rs200213764 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) rs782555930 0.00014
NM_002474.3(MYH11):c.1635G>C (p.Thr545=) rs773802963 0.00014
NM_003242.6(TGFBR2):c.1254+16T>C rs45515293 0.00014
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425 0.00014
NM_053025.4(MYLK):c.3639G>A (p.Val1213=) rs148419939 0.00014
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) rs781798819 0.00010
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587 0.00009
NM_002474.3(MYH11):c.3293+6G>A rs370658839 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936 0.00008
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007 0.00008
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_005911.6(MAT2A):c.729C>T (p.His243=) rs757299832 0.00008
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=) rs771885855 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_002474.3(MYH11):c.1056G>A (p.Ser352=) rs201256839 0.00007
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=) rs763773359 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn) rs573480396 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_053025.4(MYLK):c.5238+6G>A rs769544580 0.00007
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759 0.00007
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000138.5(FBN1):c.2901C>T (p.Cys967=) rs755610084 0.00006
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala) rs1319771049 0.00006
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531 0.00005
NM_003242.6(TGFBR2):c.95-7T>C rs764533083 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_000090.4(COL3A1):c.1348-13T>C rs753505868 0.00004
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=) rs749357239 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000138.5(FBN1):c.2168-6G>A rs200924505 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=) rs141633998 0.00004
NM_001110556.2(FLNA):c.1092C>T (p.His364=) rs782530005 0.00004
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) rs201073998 0.00004
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=) rs782006734 0.00004
NM_002474.3(MYH11):c.2592C>T (p.Thr864=) rs771714041 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=) rs373963384 0.00003
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_000138.5(FBN1):c.4665T>C (p.Val1555=) rs191569116 0.00002
NM_000138.5(FBN1):c.6998-7C>T rs764823572 0.00002
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535 0.00002
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=) rs762733113 0.00002
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151 0.00002
NM_005902.4(SMAD3):c.372C>A (p.Pro124=) rs765624013 0.00002
NM_000090.4(COL3A1):c.1870-14T>C rs201315795 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 0.00001
NM_000090.4(COL3A1):c.531C>A (p.Gly177=) rs41272797 0.00001
NM_000090.4(COL3A1):c.80-13A>C rs566189676 0.00001
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=) rs536546914 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.6038-8T>A rs569460847 0.00001
NM_000138.5(FBN1):c.7330+4A>G rs750677373 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=) rs542765381 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 0.00001
NM_004612.4(TGFBR1):c.15C>T (p.Val5=) rs1165876259 0.00001
NM_005902.4(SMAD3):c.206+11G>T rs763321881 0.00001
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr) rs548756379 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017668.3(NDE1):c.948-5748G>A rs574893374 0.00001
NM_017668.3(NDE1):c.948-9105C>T rs201028938 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
MYH11:c.503-14_503-12del rs141564071
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.5(FBN1):c.4748-11T>C rs549918653
NM_000138.5(FBN1):c.5066-12C>A rs531105331
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=) rs373366243
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala) rs782484503
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6167-4G>T rs370981323
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_002474.2:c.5919+5C>G
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.2166G>A (p.Gln722=) rs548956512
NM_002474.3(MYH11):c.2653-6G>C rs200637980
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003238.6(TGFB2):c.933-8_933-6del rs11285412
NM_003239.5(TGFB3):c.921C>T (p.Cys307=) rs575379914
NM_003242.6(TGFBR2):c.*2065C>T rs11466536
NM_003242.6(TGFBR2):c.*2248dup rs34914516
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.263+17del rs754721647
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.455-14del rs2125433170
NM_003242.6(TGFBR2):c.94+16299A>C rs184395862
NM_003242.6(TGFBR2):c.95-3300G>C rs12493607
NM_004612.2:c.76_78delCGC
NM_004612.2:c.76_78dupCG
NM_004612.4(TGFBR1):c.1131-3del
NM_004612.4(TGFBR1):c.1131-3dup
NM_004612.4(TGFBR1):c.1255+22dup
NM_004612.4(TGFBR1):c.20C>G (p.Ala7Gly) rs863223802
NM_004612.4(TGFBR1):c.343+21_343+22del rs1321978114
NM_004612.4(TGFBR1):c.343+22dup
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=) rs201444476
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup) rs753370104
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005744.5(ARIH1):c.75GGA[3] (p.Glu28del) rs143905502
NM_005901.6(SMAD2):c.730+3dup rs149135973
NM_005902.4(SMAD3):c.*3512A>G rs886051429
NM_005902.4(SMAD3):c.*3719C>T rs886051431
NM_005902.4(SMAD3):c.206+21del
NM_005902.4(SMAD3):c.206+21dup
NM_005902.4(SMAD3):c.27C>T (p.Pro9=) rs765454938
NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)
NM_005911.6(MAT2A):c.120T>C (p.Ala40=)
NM_005911.6(MAT2A):c.768+13del
NM_005911.6(MAT2A):c.768+24dup
NM_005911.6(MAT2A):c.92-5dup
NM_005911.6(MAT2A):c.951+12_951+13del
NM_005911.6(MAT2A):c.952-3dup rs139344458
NM_006258.4(PRKG1):c.522C>T (p.Thr174=) rs369697050
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850
NM_019055.6(ROBO4):c.102C>A (p.Ile34=)
NM_019055.6(ROBO4):c.103C>T (p.Leu35=)
NM_019055.6(ROBO4):c.1150G>A (p.Val384Ile)
NM_019055.6(ROBO4):c.1468C>G (p.His490Asp)
NM_019055.6(ROBO4):c.1639C>T (p.Arg547Trp)
NM_019055.6(ROBO4):c.1650G>A (p.Ala550=)
NM_019055.6(ROBO4):c.1775G>A (p.Ser592Asn)
NM_019055.6(ROBO4):c.2279C>T (p.Pro760Leu)
NM_019055.6(ROBO4):c.2748C>T (p.Ser916=)
NM_019055.6(ROBO4):c.3001+3G>A
NM_019055.6(ROBO4):c.430C>T (p.Arg144Trp)
NM_019055.6(ROBO4):c.570G>A (p.Gly190=)
NM_019055.6(ROBO4):c.645T>C (p.His215=)
NM_019055.6(ROBO4):c.6C>A (p.Gly2=)
NM_019055.6(ROBO4):c.878A>C (p.Gln293Pro)
NM_024817.3(THSD4):c.1183G>A (p.Asp395Asn)
NM_024817.3(THSD4):c.1329G>A (p.Thr443=)
NM_024817.3(THSD4):c.1576G>A (p.Val526Met)
NM_024817.3(THSD4):c.1631-5C>T
NM_024817.3(THSD4):c.1754C>T (p.Ser585Leu)
NM_024817.3(THSD4):c.183C>T (p.Pro61=)
NM_024817.3(THSD4):c.1957G>T (p.Ala653Ser)
NM_024817.3(THSD4):c.2256C>T (p.Cys752=)
NM_024817.3(THSD4):c.2708G>A (p.Ser903Asn)
NM_024817.3(THSD4):c.282C>T (p.Gly94=)
NM_024817.3(THSD4):c.2830_2835del (p.Met944_Thr945del)
NM_024817.3(THSD4):c.291G>A (p.Ala97=)
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.588+13_588+16del rs570821069

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