Source: ALL
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: rs397515804
rs397515804
FBN1
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 1.000 8 1973 2014
dbSNP: rs727503054
rs727503054
FBN1
15 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 1.000 8 1999 2019
dbSNP: rs794728190
rs794728190
FBN1
3 0.882 0.160 15 48496213 missense variant C/A;T snv 0.700 1.000 8 1973 2010
dbSNP: rs863223740
rs863223740
SMAD3
1 1.000 15 67181385 missense variant G/A snv 0.700 1.000 8 1999 2019
dbSNP: rs886038949
rs886038949
FBN1
2 0.925 0.160 15 48428459 missense variant C/T snv 0.700 1.000 8 1973 2014
dbSNP: rs104893815
rs104893815
TGFBR2
4 0.851 0.240 3 30691478 missense variant G/A snv 0.700 1.000 7 2005 2014
dbSNP: rs1057518881
rs1057518881
FBN1
6 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 1.000 7 2006 2017
dbSNP: rs1085307531
rs1085307531
FBN1
2 0.925 0.160 15 48444585 missense variant C/T snv 0.700 1.000 7 1973 2007
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 1.000 7 2006 2015
dbSNP: rs111984349
rs111984349
FBN1
9 0.763 0.200 15 48415759 missense variant C/T snv 0.700 1.000 7 1999 2014
dbSNP: rs112989722
rs112989722
FBN1
2 0.925 0.160 15 48437347 missense variant G/A;C snv 4.0E-06 0.700 1.000 7 1997 2009
dbSNP: rs113080385
rs113080385
FBN1
2 0.925 0.160 15 48437011 missense variant T/A;C snv 4.0E-06 0.700 1.000 7 1973 2016
dbSNP: rs113544411
rs113544411
FBN1
2 0.925 0.160 15 48421652 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 7 2000 2009
dbSNP: rs113605875
rs113605875
TGFBR1
3 0.882 0.120 9 99149253 missense variant G/A;C;T snv 0.700 1.000 7 2005 2012
dbSNP: rs1555393858
rs1555393858
FBN1
2 0.925 0.160 15 48415633 missense variant A/G snv 0.700 1.000 7 1973 2016
dbSNP: rs1555394238
rs1555394238
FBN1
2 0.925 0.160 15 48421990 missense variant C/T snv 0.700 1.000 7 1973 2007
dbSNP: rs1555394644
rs1555394644
FBN1
2 0.925 0.160 15 48428460 missense variant A/C;G snv 0.700 1.000 7 1973 2009
dbSNP: rs1555396198
rs1555396198
FBN1
2 0.925 0.160 15 48452604 missense variant A/G;T snv 0.700 1.000 7 1973 2017
dbSNP: rs1555396418
rs1555396418
FBN1
2 0.925 0.160 15 48456642 missense variant C/A snv 0.700 1.000 7 1973 2007
dbSNP: rs1555399763
rs1555399763
FBN1
2 0.925 0.160 15 48503849 missense variant C/A;G snv 0.700 1.000 7 2000 2016
dbSNP: rs1555401687
rs1555401687
FBN1
2 0.925 0.160 15 48537721 missense variant C/A;G;T snv 0.700 1.000 7 2006 2015
dbSNP: rs193922185
rs193922185
FBN1
10 0.752 0.200 15 48505037 missense variant G/A snv 0.700 1.000 7 1973 2015
dbSNP: rs25403
rs25403
FBN1
3 0.882 0.200 15 48613073 missense variant G/A snv 0.700 1.000 7 2002 2016
dbSNP: rs363805
rs363805
FBN1
2 0.925 0.160 15 48441726 missense variant C/A;T snv 0.700 1.000 7 1973 2015
dbSNP: rs397515802
rs397515802
FBN1
2 0.925 0.160 15 48472665 missense variant A/G snv 0.700 1.000 7 1973 2010