NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
rs146789395
|
0.00119
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
NM_000089.4(COL1A2):c.395G>A (p.Arg132His)
|
rs372678526
|
0.00009
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_053025.4(MYLK):c.5369-10T>G
|
rs373584324
|
0.00008
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)
|
rs747029402
|
0.00007
|
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met)
|
rs374878685
|
0.00006
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)
|
rs373358736
|
0.00006
|
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser)
|
rs139000120
|
0.00006
|
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe)
|
rs1007504430
|
0.00006
|
NM_053025.4(MYLK):c.774-15C>G
|
rs371552521
|
0.00006
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)
|
rs763509640
|
0.00004
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
NM_002317.7(LOX):c.1222T>C (p.Tyr408His)
|
rs765126342
|
0.00004
|
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)
|
rs549820613
|
0.00004
|
NM_017617.5(NOTCH1):c.865+10C>T
|
rs760702631
|
0.00004
|
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln)
|
rs767877538
|
0.00004
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met)
|
rs763795192
|
0.00003
|
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys)
|
rs1271941628
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp)
|
rs778733293
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000393.5(COL5A2):c.1717-3C>T
|
rs760304144
|
0.00002
|
NM_001854.4(COL11A1):c.1350+11G>A
|
rs747505977
|
0.00002
|
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser)
|
rs377036654
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_003243.5(TGFBR3):c.2027T>C (p.Phe676Ser)
|
rs147485470
|
0.00002
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
NM_000089.4(COL1A2):c.1198-12A>G
|
rs1292046736
|
0.00001
|
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys)
|
rs754825427
|
0.00001
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser)
|
rs1244308550
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys)
|
rs1557177091
|
0.00001
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)
|
rs925297712
|
0.00001
|
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu)
|
rs1308067070
|
0.00001
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val)
|
rs1365841164
|
0.00001
|
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe)
|
rs1368918637
|
0.00001
|
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu)
|
rs774553050
|
0.00001
|
NM_053025.4(MYLK):c.4620-5C>T
|
rs760680632
|
0.00001
|
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp)
|
rs1554221958
|
0.00001
|
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr)
|
rs1555573895
|
|
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys)
|
rs1171968124
|
|
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys)
|
rs904057644
|
|
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys)
|
rs1555571800
|
|
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr)
|
rs1554398544
|
|
NM_000089.4(COL1A2):c.3710A>G (p.Gln1237Arg)
|
rs1554398713
|
|
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile)
|
rs886062514
|
|
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val)
|
rs1554395967
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.1924-8C>A
|
rs1553508534
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=)
|
rs1554801686
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4954+6G>C
|
rs1031138847
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000138.5(FBN1):c.224C>G (p.Pro75Arg)
|
rs1555405654
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)
|
rs754751410
|
|
NM_001110556.2(FLNA):c.1066-15C>A
|
rs1557179297
|
|
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser)
|
rs1179925303
|
|
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro)
|
rs533540496
|
|
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala)
|
rs121912887
|
|
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly)
|
rs771139447
|
|
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu)
|
rs1252968708
|
|
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg)
|
rs141978499
|
|
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met)
|
rs957177447
|
|
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg)
|
rs1555551464
|
|
NM_003480.4(MFAP5):c.81T>G (p.Asn27Lys)
|
rs1555140533
|
|
NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser)
|
rs1554833919
|
|
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr)
|
rs771121101
|
|
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met)
|
rs1554727492
|
|
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)
|
rs1268405497
|
|
NM_053025.4(MYLK):c.2838C>G (p.His946Gln)
|
rs1200981327
|
|
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr)
|
rs756451726
|
|
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys)
|
rs1406608470
|
|
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)
|
rs142890313
|
|