ClinVar Miner

List of variants studied for Weill-Marchesani syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1286
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HGVS dbSNP gnomAD frequency
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299 0.99986
NM_030957.4(ADAMTS10):c.1588-179G>T rs9749567 0.92646
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721 0.79500
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638 0.75672
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652 0.70543
NM_139057.4(ADAMTS17):c.*510C>T rs2573650 0.69021
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613 0.68304
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_139057.4(ADAMTS17):c.1031+81A>G rs4965295 0.68113
NM_139057.4(ADAMTS17):c.873+58T>C rs4965297 0.67726
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=) rs862031 0.67247
NM_139057.4(ADAMTS17):c.*46C>G rs2581340 0.65342
NM_139057.4(ADAMTS17):c.*113A>G rs2581341 0.64262
NM_139057.4(ADAMTS17):c.*316T>C rs2581345 0.64086
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362 0.64072
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196 0.64049
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926 0.64020
NM_139057.4(ADAMTS17):c.*544G>A rs2581348 0.64018
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365 0.63990
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363 0.63825
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_139057.4(ADAMTS17):c.*885A>G rs2727198 0.62345
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625 0.61872
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195 0.61407
NM_139057.4(ADAMTS17):c.*190G>A rs2727199 0.58955
NM_139057.4(ADAMTS17):c.*900T>C rs2581359 0.58766
NM_139057.4(ADAMTS17):c.873+62C>T rs4965296 0.57943
NM_139057.4(ADAMTS17):c.*189G>C rs2581343 0.57417
NM_139057.4(ADAMTS17):c.2950-45C>T rs11634977 0.57048
NM_139057.4(ADAMTS17):c.2949+35G>A rs7175995 0.50353
NM_139057.4(ADAMTS17):c.2796+96G>A rs12900132 0.49795
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666 0.46516
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640 0.40719
NM_139057.4(ADAMTS17):c.617-41A>G rs7497712 0.40701
NM_139057.4(ADAMTS17):c.*82G>A rs3825894 0.39172
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668 0.39054
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183 0.37771
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_000428.3(LTBP2):c.*824C>T rs7569 0.34968
NM_000428.3(LTBP2):c.1987+21G>A rs862025 0.31731
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251 0.30715
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614 0.30495
NM_000428.3(LTBP2):c.*1818C>T rs1052939 0.26277
NM_000428.3(LTBP2):c.1864+22C>A rs3742794 0.25792
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328 0.25319
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706 0.24902
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282 0.23173
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583 0.18423
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966 0.15651
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832 0.08618
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962 0.08276
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612 0.07318
NM_030957.4(ADAMTS10):c.*428A>G rs116024095 0.07160
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000428.3(LTBP2):c.-232G>A rs61980926 0.06690
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971 0.06591
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025 0.06415
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707 0.06364
NM_139057.4(ADAMTS17):c.*486G>A rs117381111 0.06056
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000428.3(LTBP2):c.*1873C>G rs77847288 0.04063
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901 0.04026
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222 0.03651
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956 0.03322
NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser) rs10418929 0.03247
NM_000428.3(LTBP2):c.*1957A>G rs73296215 0.03184
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_139057.4(ADAMTS17):c.*439G>A rs140255903 0.03019
NM_030957.4(ADAMTS10):c.1900+11G>C rs78421590 0.02958
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313 0.02947
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_139057.4(ADAMTS17):c.*700G>A rs60022871 0.02686
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=) rs45473602 0.02563
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885 0.02540
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631 0.02179
NM_000428.3(LTBP2):c.*2153T>C rs113879332 0.02134
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=) rs61738017 0.01972
NM_030957.4(ADAMTS10):c.-198A>G rs4530289 0.01712
NM_000428.3(LTBP2):c.1021+14G>A rs150408645 0.01681
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=) rs61736977 0.01652
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395 0.01632
NM_000428.3(LTBP2):c.*2463G>T rs10141546 0.01598
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070 0.01571
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831 0.01571
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056 0.01566
NM_000428.3(LTBP2):c.*2044G>A rs73296214 0.01534
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01390
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553 0.01381
NM_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_030957.4(ADAMTS10):c.*449G>C rs555471852 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141 0.01313
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619 0.01261
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496 0.01217
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760 0.01213
NM_139057.4(ADAMTS17):c.*474C>T rs117821788 0.01156
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474 0.01078
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964 0.01077
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016 0.01067
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_139057.4(ADAMTS17):c.*989G>A rs57279107 0.01034
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01012
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152 0.00994
NM_030957.4(ADAMTS10):c.*171G>A rs79238375 0.00991
NM_139057.4(ADAMTS17):c.*743G>A rs74036641 0.00963
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500 0.00956
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029 0.00953
NM_139057.4(ADAMTS17):c.*116T>C rs143850369 0.00911
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841 0.00851
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676 0.00762
NM_030957.4(ADAMTS10):c.*259G>A rs74498506 0.00739
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_139057.4(ADAMTS17):c.*1565G>C rs60803373 0.00732
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018 0.00697
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544 0.00645
NM_139057.4(ADAMTS17):c.*420G>A rs556966662 0.00622
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496 0.00600
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184 0.00592
NM_139057.4(ADAMTS17):c.*1234G>A rs543905312 0.00574
NM_139057.4(ADAMTS17):c.2591+14T>G rs75585294 0.00566
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982 0.00563
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_139057.4(ADAMTS17):c.*2453C>T rs141023547 0.00558
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408 0.00554
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.*119C>T rs146119949 0.00526
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_139057.4(ADAMTS17):c.*880C>T rs187416809 0.00515
NM_030957.4(ADAMTS10):c.2865+11C>A rs367808475 0.00505
NM_000138.5(FBN1):c.*1580G>A rs17352989 0.00504
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013 0.00500
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738 0.00497
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000138.5(FBN1):c.*2674T>A rs142196699 0.00484
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291 0.00472
NM_000138.5(FBN1):c.*1084T>C rs3803350 0.00464
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
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_030957.4(ADAMTS10):c.2016C>T (p.Cys672=) rs10414102 0.00419
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=) rs139761152 0.00397
NM_030957.4(ADAMTS10):c.*20G>A rs137928083 0.00385
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823 0.00385
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795 0.00381
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000428.3(LTBP2):c.3527-3C>A rs138194436 0.00364
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672 0.00353
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821 0.00329
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400 0.00324
NM_000428.3(LTBP2):c.*705C>T rs41307092 0.00320
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620 0.00307
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797 0.00290
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490 0.00273
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294 0.00237
NM_030957.4(ADAMTS10):c.*630C>T rs187201074 0.00235
NM_000428.3(LTBP2):c.3527-14T>C rs137854886 0.00233
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
NM_139057.4(ADAMTS17):c.*1685G>A rs573719295 0.00232
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994 0.00220
NM_000428.3(LTBP2):c.807C>T (p.Pro269=) rs61738024 0.00219
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=) rs112185875 0.00213
NM_000428.3(LTBP2):c.*2363A>G rs190461277 0.00211
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg) rs146934810 0.00209
NM_000138.5(FBN1):c.*1245C>T rs181099623 0.00207
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301 0.00203
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=) rs61757472 0.00183
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830 0.00181
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg) rs76172717 0.00180
NM_000428.3(LTBP2):c.*1631C>T rs183119073 0.00178
NM_139057.4(ADAMTS17):c.*2511A>G rs145561763 0.00178
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974 0.00176
NM_139057.4(ADAMTS17):c.*1766G>A rs139353567 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764 0.00161
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 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_000138.5(FBN1):c.-176A>T rs560004254 0.00145
NM_030957.4(ADAMTS10):c.1588-11C>T rs112970413 0.00142
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=) rs145851939 0.00139
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu) rs143817747 0.00136
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln) rs116914994 0.00133
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=) rs142320702 0.00133
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143 0.00128
NM_139057.4(ADAMTS17):c.*2220G>A rs559688841 0.00128
NM_139057.4(ADAMTS17):c.*2616G>A rs375704403 0.00124
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909 0.00121
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000428.3(LTBP2):c.-55G>A rs571506111 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.*2045G>A rs372254135 0.00106
NM_030957.4(ADAMTS10):c.1901-11G>A rs117220199 0.00106
NM_139057.4(ADAMTS17):c.*2479C>G rs540696412 0.00105
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_139057.4(ADAMTS17):c.*742C>T rs555201429 0.00102
NM_139057.4(ADAMTS17):c.*960G>A rs180868548 0.00101
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val) rs141952128 0.00096
NM_000428.3(LTBP2):c.*2569G>A rs531824728 0.00094
NM_000428.3(LTBP2):c.*743G>A rs541978964 0.00092
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=) rs145206425 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_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790 0.00083
NM_139057.4(ADAMTS17):c.*671C>T rs76681073 0.00083
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) rs149952751 0.00082
NM_139057.4(ADAMTS17):c.*1859C>T rs79741636 0.00080
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala) rs946108501 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=) rs139059770 0.00075
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=) rs12586758 0.00074
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) rs139018077 0.00072
NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His) rs144166844 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) rs142675579 0.00068
NM_030957.4(ADAMTS10):c.1743C>T (p.Ile581=) rs147694025 0.00067
NM_139057.4(ADAMTS17):c.-9C>T rs192272127 0.00067
NM_139057.4(ADAMTS17):c.*2747T>G rs183457005 0.00066
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_030957.4(ADAMTS10):c.1798-6C>T rs186791828 0.00064
NM_139057.4(ADAMTS17):c.*2790C>G rs529656441 0.00063
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=) rs150055188 0.00061
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=) rs146651611 0.00061
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=) rs747636994 0.00059
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=) rs144521879 0.00056
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) rs139030976 0.00056
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935 0.00056
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623 0.00055
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) rs149991486 0.00053
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln) rs151257275 0.00053
NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile) rs145507464 0.00051
NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys) rs140493259 0.00051
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=) rs200551849 0.00051
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=) rs150290429 0.00051
NM_000428.3(LTBP2):c.-93C>T rs769936231 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp) rs139904243 0.00048
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_030957.4(ADAMTS10):c.1265C>T (p.Ala422Val) rs138620046 0.00044
NM_000138.5(FBN1):c.*43A>T rs144710695 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000428.3(LTBP2):c.*945T>C rs374130664 0.00042
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860 0.00041
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys) rs143689354 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000428.3(LTBP2):c.*229C>T rs141989493 0.00038
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr) rs137914200 0.00036
NM_139057.4(ADAMTS17):c.*692G>C rs187035332 0.00036
NM_139057.4(ADAMTS17):c.-22G>A rs760846321 0.00036
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796 0.00036
NM_000138.5(FBN1):c.*2395G>A rs184719603 0.00035
NM_030957.4(ADAMTS10):c.303C>T (p.His101=) rs141630862 0.00035
NM_139057.4(ADAMTS17):c.*2690G>A rs566216613 0.00035
NM_139057.4(ADAMTS17):c.-69C>T rs534119279 0.00035
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys) rs367651794 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=) rs113219139 0.00034
NM_139057.4(ADAMTS17):c.*1684C>T rs768887596 0.00034
NM_000428.3(LTBP2):c.1789+7G>A rs200259519 0.00033
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_030957.4(ADAMTS10):c.*146G>A rs910156203 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_139057.4(ADAMTS17):c.*2275A>G rs778643467 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000428.3(LTBP2):c.2789-9T>C rs368269193 0.00030
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000428.3(LTBP2):c.*312T>C rs534807623 0.00029
NM_139057.4(ADAMTS17):c.*1763C>T rs550240800 0.00029
NM_139057.4(ADAMTS17):c.*425C>A rs574877864 0.00029
NM_139057.4(ADAMTS17):c.789+9G>A rs377670601 0.00029
NM_139057.4(ADAMTS17):c.*519T>C rs886050966 0.00028
NM_000138.5(FBN1):c.-136G>C rs879283668 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_000428.3(LTBP2):c.*167G>A rs574028105 0.00026
NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=) rs142602984 0.00026
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662 0.00026
NM_139057.4(ADAMTS17):c.*572T>C rs751250175 0.00026
NM_030957.4(ADAMTS10):c.*356G>A rs141523849 0.00025
NM_139057.4(ADAMTS17):c.*2422C>T rs528644699 0.00025
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) rs140998386 0.00025
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475 0.00025
NM_000138.5(FBN1):c.*1706C>A rs770825180 0.00024
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000428.3(LTBP2):c.*1427A>G rs187052141 0.00024
NM_000428.3(LTBP2):c.2184C>T (p.His728=) rs140818407 0.00024
NM_139057.4(ADAMTS17):c.*4G>A rs200989311 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312 0.00023
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=) rs563938783 0.00023
NM_000138.5(FBN1):c.*1432A>T rs750902806 0.00022
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His) rs143010135 0.00022
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu) rs191944410 0.00022
NM_030957.4(ADAMTS10):c.-99-3C>T rs1047616409 0.00022
NM_139057.4(ADAMTS17):c.*419C>T rs1038576369 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000428.3(LTBP2):c.*1005C>T rs541743695 0.00021
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982 0.00021
NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr) rs121434358 0.00021
NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys) rs550588972 0.00020
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902 0.00020
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000428.3(LTBP2):c.*1180C>T rs576929018 0.00019
NM_000428.3(LTBP2):c.568G>A (p.Val190Ile) rs558742251 0.00019
NM_139057.4(ADAMTS17):c.*2379C>T rs182417427 0.00019
NM_139057.4(ADAMTS17):c.*959C>T rs141144986 0.00019
NM_139057.4(ADAMTS17):c.*966G>T rs886050963 0.00019
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613 0.00019
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met) rs142633005 0.00019
NM_139057.4(ADAMTS17):c.3275C>T (p.Pro1092Leu) rs201896149 0.00019
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly) rs886050979 0.00019
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe) rs141367283 0.00019
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu) rs148766628 0.00017
NM_030957.4(ADAMTS10):c.-60G>A rs573082154 0.00017
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=) rs145594305 0.00017
NM_000138.5(FBN1):c.*1228T>C rs372333234 0.00016
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_000428.3(LTBP2):c.*55G>A rs185374765 0.00016
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048 0.00016
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735 0.00016
NM_139057.4(ADAMTS17):c.3127+12C>T rs200475413 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly) rs201734269 0.00015
NM_139057.4(ADAMTS17):c.3100G>A (p.Ala1034Thr) rs527897248 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_030957.4(ADAMTS10):c.-153G>A rs568567704 0.00014
NM_139057.4(ADAMTS17):c.*1127C>T rs766519775 0.00014
NM_139057.4(ADAMTS17):c.*464C>T rs148258011 0.00014
NM_000428.3(LTBP2):c.-170G>T rs892707408 0.00013
NM_000428.3(LTBP2):c.2178C>T (p.Ala726=) rs144866585 0.00013
NM_000428.3(LTBP2):c.21C>G (p.Ala7=) rs757559806 0.00013
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=) rs546041607 0.00013
NM_030957.4(ADAMTS10):c.*36T>C rs782348033 0.00013
NM_030957.4(ADAMTS10):c.1395G>A (p.Pro465=) rs367671600 0.00013
NM_139057.4(ADAMTS17):c.*1065G>A rs886050959 0.00013
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955 0.00013
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His) rs201503183 0.00013
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp) rs147534770 0.00012
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu) rs141230498 0.00012
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln) rs199769798 0.00012
NM_139057.4(ADAMTS17):c.*611C>T rs906820389 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His) rs75200417 0.00011
NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile) rs139734678 0.00011
NM_000428.3(LTBP2):c.565C>T (p.Pro189Ser) rs199581921 0.00011
NM_030957.4(ADAMTS10):c.1149C>T (p.Gly383=) rs373993156 0.00011
NM_030957.4(ADAMTS10):c.1956G>A (p.Thr652=) rs148493665 0.00011
NM_139057.4(ADAMTS17):c.*2234G>C rs1040541256 0.00011
NM_139057.4(ADAMTS17):c.*2480G>A rs573353500 0.00011
NM_139057.4(ADAMTS17):c.*359A>G rs150430121 0.00011
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581 0.00011
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met) rs371570653 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=) rs562333691 0.00010
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile) rs745626701 0.00010
NM_139057.4(ADAMTS17):c.*1288C>T rs902901073 0.00010
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147 0.00010
NM_139057.4(ADAMTS17):c.*2291G>A rs750700990 0.00010
NM_139057.4(ADAMTS17):c.*2425G>A rs868757417 0.00010
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=) rs565893965 0.00010
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser) rs200327256 0.00010
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser) rs1042212825 0.00010
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=) rs146286415 0.00010
NM_000138.5(FBN1):c.*1981C>T rs1054860347 0.00009
NM_000138.5(FBN1):c.*2044C>T rs561911965 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr) rs368195399 0.00009
NM_030957.4(ADAMTS10):c.1085-10G>A rs374055293 0.00009
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236 0.00009
NM_030957.4(ADAMTS10):c.2415G>A (p.Arg805=) rs782638735 0.00009
NM_139057.4(ADAMTS17):c.*2185G>C rs540201674 0.00009
NM_139057.4(ADAMTS17):c.1889-14C>T rs374520210 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu) rs201372116 0.00008
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=) rs763990884 0.00008
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=) rs61738022 0.00008
NM_030957.4(ADAMTS10):c.*311A>G rs1045796093 0.00008
NM_030957.4(ADAMTS10):c.68C>T (p.Thr23Met) rs376131325 0.00008
NM_139057.4(ADAMTS17):c.*421G>C rs886050968 0.00008
NM_139057.4(ADAMTS17):c.789+15G>A rs374137320 0.00008
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023 0.00008
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000428.3(LTBP2):c.*2026T>C rs886050748 0.00007
NM_000428.3(LTBP2):c.-64C>T rs886050762 0.00007
NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) rs773927709 0.00007
NM_000428.3(LTBP2):c.2908+9C>T rs1004486722 0.00007
NM_000428.3(LTBP2):c.3193C>T (p.Leu1065Phe) rs150855472 0.00007
NM_000428.3(LTBP2):c.654C>T (p.Cys218=) rs375324850 0.00007
NM_030957.4(ADAMTS10):c.2130C>T (p.Gly710=) rs183691340 0.00007
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu) rs201356815 0.00007
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His) rs201920741 0.00007
NM_000138.5(FBN1):c.*2592T>C rs752936528 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000428.3(LTBP2):c.*1743C>T rs781717691 0.00006
NM_000428.3(LTBP2):c.5410T>C (p.Cys1804Arg) rs776552082 0.00006
NM_000428.3(LTBP2):c.989C>T (p.Ala330Val) rs780864087 0.00006
NM_030957.4(ADAMTS10):c.1176C>T (p.His392=) rs371013844 0.00006
NM_030957.4(ADAMTS10):c.613C>T (p.Arg205Trp) rs147270233 0.00006
NM_030957.4(ADAMTS10):c.628C>T (p.Arg210Trp) rs199972750 0.00006
NM_139057.4(ADAMTS17):c.*2316C>G rs886050954 0.00006
NM_139057.4(ADAMTS17):c.*2429G>A rs886050952 0.00006
NM_139057.4(ADAMTS17):c.*2878C>T rs886050950 0.00006
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg) rs145156568 0.00006
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=) rs760290195 0.00006
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=) rs200766799 0.00006
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=) rs374725364 0.00006
NM_139057.4(ADAMTS17):c.3128-6C>T rs148559983 0.00006
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys) rs754980579 0.00006
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser) rs150132039 0.00006
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581 0.00006
NM_000138.5(FBN1):c.-123C>A rs1004900313 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_000428.3(LTBP2):c.2388+8C>T rs201838800 0.00005
NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile) rs771319126 0.00005
NM_000428.3(LTBP2):c.2852C>T (p.Ser951Leu) rs773718655 0.00005
NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys) rs769155905 0.00005
NM_000428.3(LTBP2):c.4178-6G>A rs551478195 0.00005
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg) rs370119182 0.00005
NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met) rs189020867 0.00005
NM_030957.4(ADAMTS10):c.3043-8C>T rs759098979 0.00005
NM_139057.4(ADAMTS17):c.*1507G>A rs534291888 0.00005
NM_139057.4(ADAMTS17):c.*2289A>G rs945247732 0.00005
NM_139057.4(ADAMTS17):c.*802G>A rs571008658 0.00005
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=) rs758555346 0.00005
NM_139057.4(ADAMTS17):c.2950-6C>T rs1447997408 0.00005
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu) rs764391097 0.00005
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00004
NM_000138.5(FBN1):c.*2221A>G rs886051226 0.00004
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000428.3(LTBP2):c.*929A>G rs1175589944 0.00004
NM_000428.3(LTBP2):c.2197G>A (p.Ala733Thr) rs925483356 0.00004
NM_000428.3(LTBP2):c.2283C>T (p.Ser761=) rs537908823 0.00004
NM_000428.3(LTBP2):c.3278-15G>A rs201661499 0.00004
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=) rs147213897 0.00004
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00004
NM_000428.3(LTBP2):c.607C>T (p.Arg203Cys) rs777450651 0.00004
NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu) rs557904436 0.00004
NM_030957.4(ADAMTS10):c.*209C>T rs1471058531 0.00004
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) rs150203950 0.00004
NM_030957.4(ADAMTS10):c.1971C>T (p.Ala657=) rs557374103 0.00004
NM_030957.4(ADAMTS10):c.309C>T (p.Ser103=) rs1285176283 0.00004
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119 0.00004
NM_139057.4(ADAMTS17):c.*856C>T rs549608045 0.00004
NM_139057.4(ADAMTS17):c.-7G>A rs371479108 0.00004
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=) rs557358714 0.00004
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu) rs201586136 0.00004
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=) rs753804023 0.00004
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301 0.00004
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=) rs150431950 0.00004
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys) rs202106289 0.00004
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn) rs551851234 0.00004
NM_000138.5(FBN1):c.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_000428.3(LTBP2):c.1485G>A (p.Arg495=) rs756729691 0.00003
NM_000428.3(LTBP2):c.1972C>T (p.Arg658Trp) rs180947562 0.00003
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) rs201430837 0.00003
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862 0.00003
NM_000428.3(LTBP2):c.3606G>T (p.Leu1202=) rs373253770 0.00003
NM_000428.3(LTBP2):c.4159C>T (p.Arg1387Cys) rs747333533 0.00003
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg) rs764828666 0.00003
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024 0.00003
NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=) rs137871407 0.00003
NM_000428.3(LTBP2):c.5046C>T (p.Pro1682=) rs1194291909 0.00003
NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=) rs764652187 0.00003
NM_000428.3(LTBP2):c.5215A>G (p.Ile1739Val) rs1435761349 0.00003
NM_030957.4(ADAMTS10):c.*411C>T rs886054707 0.00003
NM_030957.4(ADAMTS10):c.-143G>C rs886054716 0.00003
NM_030957.4(ADAMTS10):c.1194C>T (p.Phe398=) rs782096562 0.00003
NM_030957.4(ADAMTS10):c.1794G>C (p.Thr598=) rs145420448 0.00003
NM_030957.4(ADAMTS10):c.2034+11C>T rs116541830 0.00003
NM_030957.4(ADAMTS10):c.592+8G>A rs201882173 0.00003
NM_139057.4(ADAMTS17):c.*1054T>C rs886050960 0.00003
NM_139057.4(ADAMTS17):c.*1749G>A rs757196506 0.00003
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953 0.00003
NM_139057.4(ADAMTS17):c.*639G>A rs886050965 0.00003
NM_139057.4(ADAMTS17):c.1323-12C>T rs770627848 0.00003
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=) rs767077707 0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980 0.00003
NM_139057.4(ADAMTS17):c.2592-10C>T rs751012843 0.00003
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=) rs900832969 0.00003
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=) rs886050976 0.00003
NM_000138.5(FBN1):c.*1249A>G rs1456413075 0.00002
NM_000138.5(FBN1):c.*1398G>C rs886051234 0.00002
NM_000138.5(FBN1):c.*1484C>T rs533502309 0.00002
NM_000138.5(FBN1):c.*253A>T rs539383558 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn) rs749253325 0.00002
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val) rs1183556572 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His) rs369888822 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000428.3(LTBP2):c.*1170A>G rs886050749 0.00002
NM_000428.3(LTBP2):c.*1481C>T rs527271189 0.00002
NM_000428.3(LTBP2):c.*609A>C rs1323555762 0.00002
NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser) rs373539611 0.00002
NM_000428.3(LTBP2):c.3511G>A (p.Gly1171Ser) rs775487511 0.00002
NM_000428.3(LTBP2):c.5182G>A (p.Gly1728Ser) rs759870336 0.00002
NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) rs886050755 0.00002
NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe) rs886050754 0.00002
NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr) rs772174775 0.00002
NM_030957.4(ADAMTS10):c.1085-5C>T rs781831794 0.00002
NM_030957.4(ADAMTS10):c.1285A>G (p.Asn429Asp) rs375444463 0.00002
NM_030957.4(ADAMTS10):c.1407G>A (p.Pro469=) rs149014496 0.00002
NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr) rs782053556 0.00002
NM_030957.4(ADAMTS10):c.518A>G (p.Glu173Gly) rs187757286 0.00002
NM_139057.4(ADAMTS17):c.*200G>A rs548191022 0.00002
NM_139057.4(ADAMTS17):c.*2115C>A rs769848171 0.00002
NM_139057.4(ADAMTS17):c.*465G>A rs886050967 0.00002
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser) rs755587669 0.00002
NM_139057.4(ADAMTS17):c.1721+1G>A rs749116256 0.00002
NM_139057.4(ADAMTS17):c.1873G>T (p.Ala625Ser) rs756053197 0.00002
NM_139057.4(ADAMTS17):c.2017-10G>C rs765531556 0.00002
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg) rs761591792 0.00002
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=) rs780909666 0.00002
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*764G>A rs55717426 0.00001
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu) rs776942896 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys) rs1335136151 0.00001
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys) rs1450795956 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser) rs372203315 0.00001
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr) rs1177856657 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg) rs372404949 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val) rs370572503 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His) rs778219976 0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn) rs778145681 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val) rs560230585 0.00001
NM_000138.5(FBN1):c.4336+11G>A rs886051249 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu) rs1286993730 0.00001
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys) rs544990350 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met) rs757901214 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr) rs777539060 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del) rs886038964 0.00001
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu) rs895824095 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150 0.00001
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) rs794728248 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His) rs773084230 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met) rs763759308 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.796G>A (p.Val266Ile) rs201669595 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg) rs1220647446 0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met) rs1480715909 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_000428.3(LTBP2):c.*1776C>T rs1378655630 0.00001
NM_000428.3(LTBP2):c.*206C>T rs192723743 0.00001
NM_000428.3(LTBP2):c.*2112G>A rs949885665 0.00001
NM_000428.3(LTBP2):c.-21A>G rs765474184 0.00001
NM_000428.3(LTBP2):c.-46G>C rs886050761 0.00001
NM_000428.3(LTBP2):c.1097G>A (p.Arg366His) rs759632617 0.00001
NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) rs200471693 0.00001
NM_000428.3(LTBP2):c.1613G>A (p.Arg538Gln) rs757892170 0.00001
NM_000428.3(LTBP2):c.2082G>A (p.Gln694=) rs757918162 0.00001
NM_000428.3(LTBP2):c.2449A>G (p.Met817Val) rs2087256544 0.00001
NM_000428.3(LTBP2):c.246G>A (p.Leu82=) rs748744542 0.00001
NM_000428.3(LTBP2):c.249G>A (p.Gln83=) rs779279335 0.00001
NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser) rs562124154 0.00001
NM_000428.3(LTBP2):c.2788+14G>A rs753628301 0.00001
NM_000428.3(LTBP2):c.2788+15C>G rs376663839 0.00001
NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) rs759008893 0.00001
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) rs745791013 0.00001
NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=) rs757843416 0.00001
NM_000428.3(LTBP2):c.3589G>A (p.Gly1197Arg) rs760459796 0.00001
NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=) rs767484358 0.00001
NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His) rs201598003 0.00001
NM_000428.3(LTBP2):c.4370-14G>A rs750045564 0.00001
NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg) rs769745393 0.00001
NM_000428.3(LTBP2):c.482G>A (p.Gly161Glu) rs1469851587 0.00001
NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg) rs549156119 0.00001
NM_000428.3(LTBP2):c.713G>A (p.Arg238His) rs943163124 0.00001
NM_000428.3(LTBP2):c.970A>C (p.Arg324=) rs372209109 0.00001
NM_030957.4(ADAMTS10):c.*330A>T rs1302375936 0.00001
NM_030957.4(ADAMTS10):c.*563C>A rs1426786259 0.00001
NM_030957.4(ADAMTS10):c.-233G>T rs1379274351 0.00001
NM_030957.4(ADAMTS10):c.1212C>T (p.Gly404=) rs1555740123 0.00001
NM_030957.4(ADAMTS10):c.1530C>G (p.Thr510=) rs886054715 0.00001
NM_030957.4(ADAMTS10):c.1880A>C (p.Lys627Thr) rs782712334 0.00001
NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr) rs886054714 0.00001
NM_030957.4(ADAMTS10):c.2239+10T>C rs782597342 0.00001
NM_030957.4(ADAMTS10):c.2433C>T (p.Leu811=) rs886054712 0.00001
NM_030957.4(ADAMTS10):c.487G>A (p.Gly163Ser) rs373876511 0.00001
NM_030957.4(ADAMTS10):c.517G>A (p.Glu173Lys) rs782396164 0.00001
NM_030957.4(ADAMTS10):c.644C>T (p.Pro215Leu) rs782497547 0.00001
NM_030957.4(ADAMTS10):c.810+1G>A rs387906266 0.00001
NM_139057.4(ADAMTS17):c.*111C>T rs886050971 0.00001
NM_139057.4(ADAMTS17):c.*1348dup rs545574106 0.00001
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384 0.00001
NM_139057.4(ADAMTS17):c.*261G>A rs886050970 0.00001
NM_139057.4(ADAMTS17):c.*805G>A rs889232446 0.00001
NM_139057.4(ADAMTS17):c.*850C>T rs886050964 0.00001
NM_139057.4(ADAMTS17):c.-4T>C rs886050984 0.00001
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly) rs1442746480 0.00001
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=) rs558036408 0.00001
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=) rs1450190162 0.00001
NM_139057.4(ADAMTS17):c.1075+10G>C rs943576519 0.00001
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=) rs371229459 0.00001
NM_139057.4(ADAMTS17):c.1323-11G>A rs74442617 0.00001
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His) rs765427198 0.00001
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu) rs200960936 0.00001
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329 0.00001
NM_139057.4(ADAMTS17):c.1888+9A>C rs201219446 0.00001
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=) rs749551110 0.00001
NM_139057.4(ADAMTS17):c.2017-3T>C rs760792591 0.00001
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=) rs200809221 0.00001
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=) rs763171758 0.00001
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=) rs777524361 0.00001
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=) rs746354760 0.00001
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys) rs775321973 0.00001
NM_139057.4(ADAMTS17):c.2984G>A (p.Arg995Gln) rs1289240183 0.00001
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu) rs1375656495 0.00001
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr) rs144662002 0.00001
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=) rs1360871464 0.00001
NM_139057.4(ADAMTS17):c.616+7C>T rs886050978 0.00001
NM_139057.4(ADAMTS17):c.790-6T>C rs886050977 0.00001
NC_000015.10:g.(48508704_48510046)_(48526257_48534080)del
NC_000015.10:g.(99976222_99993049)_(99997590_100048857)del
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.-400A>T rs1890299170
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*107A>G rs562749473
NM_000138.5(FBN1):c.*1122C>T rs2042846511
NM_000138.5(FBN1):c.*1201T>G rs574181586
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*235T>C rs1597506366
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*311G>A rs894774727
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-108G>A rs1029606067
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.-70C>A rs886051253
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.164G>C (p.Gly55Ala)
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg) rs2043595247
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr) rs1489199503
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu) rs148076256
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala) rs761632843
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg) rs1031572615
NM_000138.5(FBN1):c.329C>G (p.Ser110Cys)
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr) rs2043467019
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu) rs397515808
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.4538G>C (p.Cys1513Ser)
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) rs727503056
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp) rs2043337073
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln) rs769588424
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5006_5013del (p.Asn1669fs)
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) rs1555396783
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr) rs2043210566
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val) rs2043210544
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser) rs2043210015
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile) rs1555395768
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe) rs1221144366
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala) rs1484900122
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val) rs183690919
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser) rs2141237126
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) rs2043050683
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) rs763165301
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu) rs776823384
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala) rs1375370990
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu) rs2043017212
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly) rs794728261
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp)
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile) rs2042946390
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg) rs2043995400
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg) rs1566889870
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg) rs2141353715
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe) rs1464168530
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) rs794728284
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8226+5del
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His) rs868087455
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys) rs1566919661
NM_000428.3(LTBP2):c.*1029G>A rs2086890935
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.*1302G>A rs191692241
NM_000428.3(LTBP2):c.*1302G>C rs191692241
NM_000428.3(LTBP2):c.*1393T>C rs2086887490
NM_000428.3(LTBP2):c.*147A>T rs886050753
NM_000428.3(LTBP2):c.*1518_*1520dup rs565536636
NM_000428.3(LTBP2):c.*1777A>G rs1419112516
NM_000428.3(LTBP2):c.*2236C>T rs753803515
NM_000428.3(LTBP2):c.*2266G>A rs886050747
NM_000428.3(LTBP2):c.*233A>G rs886050752
NM_000428.3(LTBP2):c.*2353T>C rs552983028
NM_000428.3(LTBP2):c.*2419C>T rs1595233261
NM_000428.3(LTBP2):c.*316C>G rs957387729
NM_000428.3(LTBP2):c.*373A>G rs886050751
NM_000428.3(LTBP2):c.*384G>C rs2086896920
NM_000428.3(LTBP2):c.*397C>A rs2086896748
NM_000428.3(LTBP2):c.*638T>G rs886050750
NM_000428.3(LTBP2):c.*742C>T rs913148674
NM_000428.3(LTBP2):c.-222C>G rs886050764
NM_000428.3(LTBP2):c.-33C>A rs886050760
NM_000428.3(LTBP2):c.-97C>T rs886050763
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000428.3(LTBP2):c.1199G>C (p.Cys400Ser) rs987914104
NM_000428.3(LTBP2):c.1382C>G (p.Pro461Arg) rs765689019
NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr) rs553562104
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.3(LTBP2):c.1656C>T (p.Gly552=) rs764120281
NM_000428.3(LTBP2):c.1745C>T (p.Ala582Val) rs886050759
NM_000428.3(LTBP2):c.1760C>T (p.Thr587Ile) rs886050758
NM_000428.3(LTBP2):c.1833G>A (p.Gly611=) rs775155970
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2388+8C>G rs201838800
NM_000428.3(LTBP2):c.2389-2A>G rs1327636983
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.2885T>C (p.Met962Thr) rs886050757
NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=) rs886050756
NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp) rs369840829
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp) rs200532538
NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp) rs2087004341
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)
NM_000428.3(LTBP2):c.4232T>G (p.Met1411Arg) rs578210394
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala) rs758952168
NM_000428.3(LTBP2):c.4955G>T (p.Arg1652Leu) rs773510546
NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=) rs372981316
NM_000428.3(LTBP2):c.804G>A (p.Pro268=) rs139052892
NM_000428.3(LTBP2):c.804_821del (p.265PQSPPA[1]) rs554570575
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
NM_030957.4(ADAMTS10):c.*157G>A rs2042332746
NM_030957.4(ADAMTS10):c.*238dup rs151216219
NM_030957.4(ADAMTS10):c.*322C>T rs886054708
NM_030957.4(ADAMTS10):c.*447G>T rs1385837919
NM_030957.4(ADAMTS10):c.*456del rs34057037
NM_030957.4(ADAMTS10):c.*456dup rs34057037
NM_030957.4(ADAMTS10):c.*47A>G rs905913217
NM_030957.4(ADAMTS10):c.*578C>A rs2042325419
NM_030957.4(ADAMTS10):c.*81G>C rs886054709
NM_030957.4(ADAMTS10):c.*81G>T rs886054709
NM_030957.4(ADAMTS10):c.*85dup rs576948646
NM_030957.4(ADAMTS10):c.-99-7C>G rs907764817
NM_030957.4(ADAMTS10):c.1084+6C>T
NM_030957.4(ADAMTS10):c.1179G>C (p.Glu393Asp)
NM_030957.4(ADAMTS10):c.1183G>A (p.Gly395Arg)
NM_030957.4(ADAMTS10):c.1190+1G>A rs431825170
NM_030957.4(ADAMTS10):c.1219A>G (p.Asn407Asp)
NM_030957.4(ADAMTS10):c.1264G>T (p.Ala422Ser)
NM_030957.4(ADAMTS10):c.133A>G (p.Thr45Ala)
NM_030957.4(ADAMTS10):c.1462C>A (p.Arg488Ser)
NM_030957.4(ADAMTS10):c.146A>G (p.His49Arg) rs1555742346
NM_030957.4(ADAMTS10):c.1480-4G>T rs368465218
NM_030957.4(ADAMTS10):c.1520G>A (p.Arg507Gln)
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp) rs267606636
NM_030957.4(ADAMTS10):c.1568C>T (p.Thr523Met) rs782308360
NM_030957.4(ADAMTS10):c.1655C>G (p.Pro552Arg) rs1216168299
NM_030957.4(ADAMTS10):c.1659G>C (p.Trp553Cys)
NM_030957.4(ADAMTS10):c.1797+11C>A rs2042533385
NM_030957.4(ADAMTS10):c.1864C>T (p.Arg622Cys)
NM_030957.4(ADAMTS10):c.1893C>A (p.Tyr631Ter)
NM_030957.4(ADAMTS10):c.1901-13C>A rs782114199
NM_030957.4(ADAMTS10):c.198C>T (p.Arg66=) rs149789969
NM_030957.4(ADAMTS10):c.2005G>T (p.Val669Leu) rs144596955
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys) rs267606637
NM_030957.4(ADAMTS10):c.2220C>T (p.Asn740=) rs886054713
NM_030957.4(ADAMTS10):c.2361C>G (p.Ser787Arg)
NM_030957.4(ADAMTS10):c.2404-9T>C rs2042432536
NM_030957.4(ADAMTS10):c.2421G>T (p.Glu807Asp) rs545953920
NM_030957.4(ADAMTS10):c.24C>A (p.Leu8=) rs1555742491
NM_030957.4(ADAMTS10):c.2530+9G>A rs782625211
NM_030957.4(ADAMTS10):c.2632G>A (p.Ala878Thr) rs1197418432
NM_030957.4(ADAMTS10):c.2707G>C (p.Gly903Arg)
NM_030957.4(ADAMTS10):c.2720G>A (p.Arg907His)
NM_030957.4(ADAMTS10):c.2888G>A (p.Gly963Asp)
NM_030957.4(ADAMTS10):c.292C>T (p.Leu98=) rs2042706336
NM_030957.4(ADAMTS10):c.2986C>T (p.Arg996Cys)
NM_030957.4(ADAMTS10):c.3002G>A (p.Arg1001His) rs2042408557
NM_030957.4(ADAMTS10):c.3083T>G (p.Val1028Gly)
NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=) rs886054711
NM_030957.4(ADAMTS10):c.3202+13C>T rs886054710
NM_030957.4(ADAMTS10):c.335T>C (p.Leu112Pro) rs782581897
NM_030957.4(ADAMTS10):c.373G>A (p.Ala125Thr) rs782138140
NM_030957.4(ADAMTS10):c.557G>T (p.Arg186Leu) rs781891774
NM_030957.4(ADAMTS10):c.629G>A (p.Arg210Gln)
NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg) rs1555741490
NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln)
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) rs121434357
NM_030957.4(ADAMTS10):c.726_727del (p.Glu242fs)
NM_030957.4(ADAMTS10):c.811-149G>A rs7248483
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) rs782449192
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter) rs121434359
NM_139057.4(ADAMTS17):c.*1011_*1016del rs879713910
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1016C>T rs886050962
NM_139057.4(ADAMTS17):c.*1024T>G rs886050961
NM_139057.4(ADAMTS17):c.*1213G>C rs982642681
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1227AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1278A>G rs2060245859
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1431TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1642G>A rs577902130
NM_139057.4(ADAMTS17):c.*1708G>C rs769909152
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*1759G>C rs539776359
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*181C>T rs760184660
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*19G>A rs201992797
NM_139057.4(ADAMTS17):c.*2013T>A rs2727194
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2015T>C rs956479865
NM_139057.4(ADAMTS17):c.*2142GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2157AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2172T>C rs191191512
NM_139057.4(ADAMTS17):c.*2186T>C rs943727216
NM_139057.4(ADAMTS17):c.*2196C>T rs528240967
NM_139057.4(ADAMTS17):c.*221G>A rs1286406738
NM_139057.4(ADAMTS17):c.*2228G>C rs541793251
NM_139057.4(ADAMTS17):c.*2290C>T rs374783295
NM_139057.4(ADAMTS17):c.*2292C>T rs371938855
NM_139057.4(ADAMTS17):c.*2305T>C rs2060219977
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*2355G>C rs564194386
NM_139057.4(ADAMTS17):c.*2472C>G rs138099553
NM_139057.4(ADAMTS17):c.*2472C>T rs138099553
NM_139057.4(ADAMTS17):c.*2501C>T rs2060214433
NM_139057.4(ADAMTS17):c.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2600C>T rs2060211133
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*260C>T rs747343009
NM_139057.4(ADAMTS17):c.*2626_*2628del rs543559051
NM_139057.4(ADAMTS17):c.*2637C>G rs529849561
NM_139057.4(ADAMTS17):c.*2645C>T rs114391483
NM_139057.4(ADAMTS17):c.*2652A>T rs994363579
NM_139057.4(ADAMTS17):c.*2678T>G rs2060208704
NM_139057.4(ADAMTS17):c.*2738G>C rs535694449
NM_139057.4(ADAMTS17):c.*290C>A rs1016206521
NM_139057.4(ADAMTS17):c.*2934G>T rs1241129749
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*376T>G rs2060267332
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*481G>A rs1046788827
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*498A>T rs2573651
NM_139057.4(ADAMTS17):c.*567G>A rs2573649
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*612G>T rs574728895
NM_139057.4(ADAMTS17):c.*620T>C rs1164434838
NM_139057.4(ADAMTS17):c.*857G>A rs552737711
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.*901G>A rs962309056
NM_139057.4(ADAMTS17):c.*963C>T rs563070394
NM_139057.4(ADAMTS17):c.*99A>G rs58960452
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-19dup rs150933882
NM_139057.4(ADAMTS17):c.-20G>A rs569251254
NM_139057.4(ADAMTS17):c.-20G>C rs569251254
NM_139057.4(ADAMTS17):c.-20G>T rs569251254
NM_139057.4(ADAMTS17):c.-37C>T rs1419969888
NM_139057.4(ADAMTS17):c.-62C>A rs886050985
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg) rs886050975
NM_139057.4(ADAMTS17):c.1239G>C (p.Met413Ile)
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=) rs958960649
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met) rs1244171699
NM_139057.4(ADAMTS17):c.1630G>T (p.Gly544Ter)
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg) rs770984984
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.1721+4A>G
NM_139057.4(ADAMTS17):c.1924_1929dup (p.Lys642_Glu643dup) rs533437573
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His) rs145922030
NM_139057.4(ADAMTS17):c.197_206del (p.Arg66fs)
NM_139057.4(ADAMTS17):c.1996T>G (p.Cys666Gly) rs2141096474
NM_139057.4(ADAMTS17):c.2138-13A>G rs2032359159
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr) rs946108501
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu) rs886050981
NM_139057.4(ADAMTS17):c.2254A>G (p.Ile752Val) rs2141600468
NM_139057.4(ADAMTS17):c.2295+3A>G
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser) rs770794109
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu) rs144007074
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg) rs545996605
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg) rs201676815
NM_139057.4(ADAMTS17):c.2456-1dup rs387906291
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn) rs147316982
NM_139057.4(ADAMTS17):c.2560C>T (p.Arg854Ter)
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_139057.4(ADAMTS17):c.2592-9G>T rs373353462
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro) rs886050974
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=) rs139105066
NM_139057.4(ADAMTS17):c.2796+5G>A rs2141345957
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=) rs886050973
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys) rs149434438
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=) rs1426438937
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) rs1555501030
NM_139057.4(ADAMTS17):c.662_665del (p.Glu221fs) rs2142079953
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=) rs1596563056
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) rs267606638
NM_139057.4(ADAMTS17):c.79+3A>C rs2046376517
NM_139057.4(ADAMTS17):c.80-10C>G rs886050983
NM_139057.4(ADAMTS17):c.873+1G>T rs1160509052

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