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: rs113871094
rs113871094
FBN1
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 1.000 5 2001 2011
dbSNP: rs727503057
rs727503057
FBN1
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 1.000 13 1973 2015
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: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 1.000 3 1994 2002
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: rs730880099
rs730880099
FBN1
11 0.742 0.200 15 48510125 missense variant G/A snv 0.700 1.000 6 1973 2007
dbSNP: rs137854480
rs137854480
FBN1
11 0.742 0.200 15 48537629 missense variant G/A snv 0.700 1.000 4 2001 2009
dbSNP: rs112550005
rs112550005
FBN1
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 1.000 2 2002 2016
dbSNP: rs193922185
rs193922185
FBN1
10 0.752 0.200 15 48505037 missense variant G/A snv 0.700 1.000 7 1973 2015
dbSNP: rs397515757
rs397515757
FBN1
10 0.752 0.200 15 48515382 splice region variant C/T snv 0.700 1.000 6 1999 2015
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
14 0.752 0.280 10 88941309 missense variant C/T snv 0.700 1.000 5 2009 2013
dbSNP: rs794728195
rs794728195
FBN1
10 0.752 0.200 15 48495155 missense variant G/A snv 0.700 1.000 5 2004 2017
dbSNP: rs111401431
rs111401431
FBN1
9 0.763 0.200 15 48468097 missense variant G/A snv 0.700 1.000 12 2000 2016
dbSNP: rs1555400373
rs1555400373
FBN1
9 0.763 0.200 15 48515393 missense variant A/G snv 0.700 1.000 8 1973 2008
dbSNP: rs193922228
rs193922228
FBN1
9 0.763 0.200 15 48430736 missense variant A/G snv 7.0E-06 0.700 1.000 8 1999 2016
dbSNP: rs111984349
rs111984349
FBN1
9 0.763 0.200 15 48415759 missense variant C/T snv 0.700 1.000 7 1999 2014
dbSNP: rs140583
rs140583
FBN1
9 0.763 0.200 15 48495219 stop gained G/A snv 0.700 1.000 6 1991 2015
dbSNP: rs113543334
rs113543334
FBN1
9 0.763 0.200 15 48432944 missense variant A/G snv 0.700 1.000 4 2006 2009
dbSNP: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 1.000 3 1995 2009
dbSNP: rs193922204
rs193922204
FBN1
9 0.763 0.200 15 48468542 splice region variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 2 2001 2009
dbSNP: rs794728334
rs794728334
FBN1
9 0.763 0.200 15 48437069 stop gained C/A;T snv 0.700 1.000 1 2019 2019
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: rs397515789
rs397515789
FBN1
10 0.776 0.240 15 48488112 splice donor variant C/A;T snv 0.700 1.000 3 2005 2009
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 1.000 6 1993 2007
dbSNP: rs104893810
rs104893810
TGFBR2
7 0.790 0.360 3 30691477 missense variant C/T snv 0.700 1.000 4 2005 2012