NM_000089.4(COL1A2):c.937-3C>T
|
rs42519
|
0.81243
|
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)
|
rs42524
|
0.80779
|
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile)
|
rs154001
|
0.68054
|
NM_000093.5(COL5A1):c.*1125A>T
|
rs1134170
|
0.66610
|
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg)
|
rs185819
|
0.51248
|
NM_004612.4(TGFBR1):c.*884A>G
|
rs334348
|
0.28211
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
NM_004612.4(TGFBR1):c.*69A>G
|
rs868
|
0.17222
|
NM_001365276.2(TNXB):c.2761T>G (p.Ser921Ala)
|
rs204900
|
0.14952
|
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser)
|
rs2269429
|
0.12889
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_001365276.2(TNXB):c.7168+5G>A
|
rs204885
|
0.04539
|
NM_000088.4(COL1A1):c.177G>T (p.Arg59=)
|
rs1057297
|
0.04003
|
NM_001365276.2(TNXB):c.5713G>A (p.Glu1905Lys)
|
rs17207923
|
0.03984
|
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=)
|
rs6869261
|
0.03924
|
NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly)
|
rs41270450
|
0.03853
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
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_001365276.2(TNXB):c.4241G>A (p.Arg1414Gln)
|
rs9267799
|
0.03318
|
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_013352.4(DSE):c.53G>T (p.Cys18Phe)
|
rs76186865
|
0.03160
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=)
|
rs1862211
|
0.02988
|
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)
|
rs2228047
|
0.02974
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
NM_013352.4(DSE):c.844A>G (p.Ile282Val)
|
rs34994230
|
0.02817
|
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=)
|
rs35462609
|
0.02744
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
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_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)
|
rs35445112
|
0.02575
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
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_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
NM_001365276.2(TNXB):c.7377C>T (p.Gly2459=)
|
rs59619270
|
0.02517
|
NM_001365276.2(TNXB):c.4332C>T (p.His1444=)
|
rs61998168
|
0.02515
|
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)
|
rs34383505
|
0.02500
|
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=)
|
rs148616993
|
0.02438
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_018699.4(PRDM5):c.660G>A (p.Gln220=)
|
rs74320998
|
0.02419
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly)
|
rs59567206
|
0.02208
|
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
NM_001365276.2(TNXB):c.9641G>T (p.Gly3214Val)
|
rs9267795
|
0.02152
|
NM_000302.4(PLOD1):c.1788G>T (p.Val596=)
|
rs35460537
|
0.02126
|
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)
|
rs879691
|
0.02109
|
NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg)
|
rs17207895
|
0.02019
|
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=)
|
rs76442115
|
0.02017
|
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg)
|
rs75136873
|
0.02017
|
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=)
|
rs17150692
|
0.01889
|
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_000090.4(COL3A1):c.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
NM_001365276.2(TNXB):c.1734C>T (p.Asp578=)
|
rs41270458
|
0.01827
|
NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg)
|
rs61910712
|
0.01812
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
NM_001365276.2(TNXB):c.5823C>T (p.Ser1941=)
|
rs116094055
|
0.01719
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_001365276.2(TNXB):c.517G>A (p.Ala173Thr)
|
rs61746206
|
0.01620
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
NM_001365276.2(TNXB):c.11387-9T>C
|
rs2894233
|
0.01611
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
NM_000093.5(COL5A1):c.5068-7T>C
|
rs113256540
|
0.01472
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_001365276.2(TNXB):c.3191G>A (p.Arg1064His)
|
rs61995676
|
0.01344
|
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
NM_000088.4(COL1A1):c.298+7C>A
|
rs41317345
|
0.01333
|
NM_001365276.2(TNXB):c.5679G>A (p.Thr1893=)
|
rs115612382
|
0.01326
|
NM_001365276.2(TNXB):c.3419G>A (p.Gly1140Asp)
|
rs149995364
|
0.01305
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln)
|
rs35741412
|
0.01241
|
NM_007255.3(B4GALT7):c.297G>T (p.Val99=)
|
rs114036939
|
0.01155
|
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)
|
rs74384633
|
0.01153
|
NM_018699.4(PRDM5):c.491A>T (p.Lys164Ile)
|
rs146268537
|
0.01143
|
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=)
|
rs117149938
|
0.01130
|
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
NM_001365276.2(TNXB):c.9672G>A (p.Leu3224=)
|
rs61740331
|
0.01104
|
NM_001365276.2(TNXB):c.4848G>A (p.Gly1616=)
|
rs190967484
|
0.01043
|
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr)
|
rs28361051
|
0.01025
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=)
|
rs76754323
|
0.00928
|
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg)
|
rs35372714
|
0.00904
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001365276.2(TNXB):c.9849G>A (p.Thr3283=)
|
rs147118175
|
0.00874
|
NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=)
|
rs61740712
|
0.00867
|
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)
|
rs6910390
|
0.00842
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_018699.4(PRDM5):c.1273A>G (p.Ile425Val)
|
rs75893420
|
0.00830
|
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)
|
rs148275339
|
0.00788
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)
|
rs41316667
|
0.00750
|
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)
|
rs565885690
|
0.00707
|
NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=)
|
rs115065067
|
0.00690
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
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_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)
|
rs34119447
|
0.00635
|
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)
|
rs117555121
|
0.00632
|
NM_001999.4(FBN2):c.629-9A>G
|
rs56025995
|
0.00616
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_014244.5(ADAMTS2):c.1629+9G>A
|
rs115550684
|
0.00560
|
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)
|
rs118086587
|
0.00554
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_013352.4(DSE):c.711G>C (p.Leu237=)
|
rs140034597
|
0.00484
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
|
rs61757478
|
0.00427
|
NM_001365276.2(TNXB):c.6348C>T (p.Thr2116=)
|
rs143840297
|
0.00419
|
NM_001365276.2(TNXB):c.1837A>G (p.Ser613Gly)
|
rs61744970
|
0.00418
|
NM_001365276.2(TNXB):c.6683T>A (p.Phe2228Tyr)
|
rs3749960
|
0.00418
|
NM_001365276.2(TNXB):c.2367G>A (p.Gly789=)
|
rs117182156
|
0.00399
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_001365276.2(TNXB):c.11417A>G (p.Gln3806Arg)
|
rs2395085
|
0.00337
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_001365276.2(TNXB):c.3445+8A>G
|
rs201624002
|
0.00326
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00324
|
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)
|
rs146120469
|
0.00321
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu)
|
rs140770834
|
0.00309
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser)
|
rs140530599
|
0.00296
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_001365276.2(TNXB):c.6544+8T>A
|
rs150379644
|
0.00278
|
NM_013352.4(DSE):c.209G>A (p.Arg70His)
|
rs147683614
|
0.00278
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)
|
rs532857190
|
0.00223
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_001365276.2(TNXB):c.8598C>T (p.Val2866=)
|
rs141752970
|
0.00202
|
NM_001365276.2(TNXB):c.5937C>T (p.Thr1979=)
|
rs3749963
|
0.00200
|
NM_001365276.2(TNXB):c.9438G>A (p.Thr3146=)
|
rs202162469
|
0.00200
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_001365276.2(TNXB):c.6513C>T (p.Arg2171=)
|
rs117336748
|
0.00198
|
NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr)
|
rs373158501
|
0.00198
|
NM_001365276.2(TNXB):c.9643G>A (p.Glu3215Lys)
|
rs2075563
|
0.00198
|
NM_001365276.2(TNXB):c.4885G>A (p.Glu1629Lys)
|
rs78493656
|
0.00197
|
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_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
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_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met)
|
rs2271211
|
0.00108
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
|
rs142832916
|
0.00066
|
NM_001365276.2(TNXB):c.6608G>A (p.Arg2203Lys)
|
rs150876029
|
0.00049
|
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)
|
rs145608939
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=)
|
rs74811638
|
0.00022
|
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)
|
rs375631252
|
0.00021
|
NM_000088.4(COL1A1):c.957+10C>A
|
rs376179885
|
0.00020
|
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)
|
rs367685759
|
0.00019
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=)
|
rs28763933
|
0.00011
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu)
|
rs144574441
|
0.00007
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_000090.4(COL3A1):c.1509+7A>C
|
rs201740954
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1983+9G>T
|
rs201091992
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000089.4(COL1A2):c.1252-7del
|
rs35587403
|
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)
|
rs201510617
|
|
NM_001365276.2(TNXB):c.6902C>A (p.Pro2301His)
|
rs2269428
|
|
NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg)
|
rs61745355
|
|
NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr)
|
rs149492184
|
|
NM_001365276.2(TNXB):c.9440-12_9440-10del
|
rs199828189
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser)
|
rs56236932
|
|
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val)
|
rs140056980
|
|
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=)
|
rs78022634
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=)
|
rs17608368
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
NM_013352.4(DSE):c.2619_2621del (p.Gly874del)
|
rs111252008
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del)
|
rs568040559
|
|