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: rs113812345
rs113812345
FBN1
10 0.790 0.160 15 48513591 stop gained G/A snv 0.700 1.000 3 2005 2016
dbSNP: rs1555395001
rs1555395001
FBN1
8 0.807 0.200 15 48434600 missense variant A/G snv 0.700 1.000 6 1973 2007
dbSNP: rs1555398673
rs1555398673
FBN1
7 0.807 0.200 15 48488433 missense variant A/G snv 0.700 1.000 2 1996 2011
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: rs104893819
rs104893819
TGFBR2
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 1.000 5 2004 2012
dbSNP: rs104893811
rs104893811
TGFBR2
4 0.851 0.160 3 30674228 missense variant C/T snv 0.700 1.000 9 2005 2016
dbSNP: rs104893815
rs104893815
TGFBR2
4 0.851 0.240 3 30691478 missense variant G/A snv 0.700 1.000 7 2005 2014
dbSNP: rs137854464
rs137854464
FBN1
5 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.700 1.000 5 1999 2016
dbSNP: rs137854468
rs137854468
FBN1
6 0.851 0.160 15 48487396 missense variant C/T snv 0.700 1.000 5 1976 2010
dbSNP: rs794728319
rs794728319
FBN1
4 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 1.000 5 2002 2016
dbSNP: rs137854478
rs137854478
FBN1
4 0.851 0.160 15 48488233 missense variant C/T snv 0.700 1.000 3 2000 2011
dbSNP: rs397514558
rs397514558
FBN1
4 0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs761857514
rs761857514
FBN1
8 0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs147195031
rs147195031
FBN1
3 0.882 0.160 15 48420780 missense variant G/A snv 0.700 1.000 9 1973 2016
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: 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: rs25403
rs25403
FBN1
3 0.882 0.200 15 48613073 missense variant G/A snv 0.700 1.000 7 2002 2016
dbSNP: rs886039551
rs886039551
TGFBR2
4 0.882 0.120 3 30674186 missense variant G/A snv 0.700 1.000 7 2006 2014
dbSNP: rs111426349
rs111426349
TGFBR1
4 0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06 0.700 1.000 6 2006 2016
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 6 2001 2018
dbSNP: rs267606800
rs267606800
FBN1
3 0.882 0.160 15 48467994 missense variant C/G;T snv 0.700 1.000 6 2000 2016
dbSNP: rs794728199
rs794728199
FBN1
3 0.882 0.200 15 48489980 missense variant C/A;T snv 0.700 1.000 5 2001 2014
dbSNP: rs863223852
rs863223852
TGFBR2
4 0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 2004 2017
dbSNP: rs104893809
rs104893809
TGFBR2
3 0.882 0.120 3 30691504 missense variant C/T snv 0.700 1.000 4 2004 2011
dbSNP: rs104893816
rs104893816
TGFBR2
3 0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06 0.700 1.000 4 2005 2011