Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.820 1.000 6 1993 2017
dbSNP: rs137854468
rs137854468
FBN1
3 0.851 0.160 15 48487396 missense variant C/T snv 0.810 1.000 5 1976 2013
dbSNP: rs137854478
rs137854478
FBN1
4 0.851 0.160 15 48488233 missense variant C/T snv 0.810 1.000 3 1993 2017
dbSNP: rs137854462
rs137854462
FBN1
1 1.000 0.160 15 48510115 missense variant T/A snv 0.810 1.000 0 1993 2017
dbSNP: rs137854467
rs137854467
FBN1
6 0.790 0.280 15 48600217 missense variant G/A snv 0.810 1.000 0 1993 2017
dbSNP: rs111401431
rs111401431
FBN1
9 0.763 0.200 15 48468097 missense variant G/A snv 0.800 1.000 13 1996 2017
dbSNP: rs137854480
rs137854480
FBN1
9 0.742 0.200 15 48537629 missense variant G/A snv 0.800 1.000 9 1993 2019
dbSNP: rs140593
rs140593
FBN1
2 0.925 0.160 15 48489896 missense variant C/G;T snv 0.800 1.000 9 1993 2017
dbSNP: rs112728248
rs112728248
FBN1
2 0.925 0.160 15 48448812 missense variant C/T snv 0.800 1.000 8 1973 2017
dbSNP: rs140603
rs140603
FBN1
2 0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04 0.800 1.000 8 1993 2017
dbSNP: rs111984349
rs111984349
FBN1
9 0.763 0.200 15 48415759 missense variant C/T snv 0.800 1.000 7 1999 2014
dbSNP: rs113544411
rs113544411
FBN1
2 0.925 0.160 15 48421652 stop gained G/A;C;T snv 1.2E-05 0.800 1.000 7 1996 2017
dbSNP: rs25403
rs25403
FBN1
2 0.882 0.200 15 48613073 missense variant G/A snv 0.800 1.000 7 2002 2016
dbSNP: rs112836174
rs112836174
FBN1
2 0.925 0.160 15 48430791 missense variant A/G;T snv 0.800 1.000 5 2002 2009
dbSNP: rs137854464
rs137854464
FBN1
4 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.800 1.000 5 1993 2016
dbSNP: rs140592
rs140592
FBN1
2 0.925 0.160 15 48489947 missense variant A/G snv 7.0E-06 0.800 1.000 5 1993 2017
dbSNP: rs363853
rs363853
FBN1
1 1.000 0.160 15 48596292 missense variant A/G snv 0.800 1.000 5 1993 2017
dbSNP: rs137854460
rs137854460
FBN1
2 0.925 0.160 15 48432943 missense variant C/G;T snv 0.800 1.000 4 1993 2017
dbSNP: rs137854471
rs137854471
FBN1
2 0.925 0.160 15 48483931 missense variant C/T snv 0.800 1.000 3 1993 2017
dbSNP: rs111929350
rs111929350
FBN1
1 1.000 0.160 15 48452603 missense variant C/A;G;T snv 0.800 1.000 2 1996 2017
dbSNP: rs111588631
rs111588631
FBN1
1 1.000 0.160 15 48428391 missense variant A/G snv 0.800 1.000 0 1996 2017
dbSNP: rs112375043
rs112375043
FBN1
2 0.925 0.160 15 48472594 stop gained G/A;C;T snv 3.6E-05 1.4E-05 0.800 1.000 0 1996 2017
dbSNP: rs112660651
rs112660651
FBN1
2 0.925 0.160 15 48610808 missense variant C/A;G;T snv 0.800 1.000 0 1996 2017
dbSNP: rs137854457
rs137854457
FBN1
2 0.925 0.160 15 48428423 missense variant C/G;T snv 0.800 1.000 0 1993 2017
dbSNP: rs137854458
rs137854458
FBN1
1 1.000 0.160 15 48483910 missense variant C/G snv 0.800 1.000 0 1993 2017