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: rs121912905
rs121912905
2 0.925 0.120 7 94408806 missense variant G/T snv 0.020 1.000 2 1991 1992
dbSNP: rs67815019
rs67815019
2 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 2 2007 2016
dbSNP: rs67865220
rs67865220
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.020 1.000 2 2016 2017
dbSNP: rs72654802
rs72654802
3 0.882 0.120 17 50188122 missense variant C/T snv 0.020 1.000 2 2011 2012
dbSNP: rs786201032
rs786201032
4 0.925 0.120 11 299372 missense variant G/A snv 0.020 1.000 2 2016 2018
dbSNP: rs1044293062
rs1044293062
1 1.000 0.120 3 33114388 missense variant C/T snv 7.7E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1187611948
rs1187611948
2 0.925 0.120 6 81751762 missense variant T/C snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs121907917
rs121907917
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121912906
rs121912906
2 0.925 0.120 7 94412593 missense variant G/T snv 0.010 1.000 1 1991 1991
dbSNP: rs121912910
rs121912910
2 0.925 0.120 7 94413083 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs121918126
rs121918126
5 0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1226770904
rs1226770904
1 1.000 0.120 1 42747303 missense variant C/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1229356148
rs1229356148
1 1.000 0.120 3 146072579 missense variant C/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1277989297
rs1277989297
FN1
2 0.925 0.200 2 215428270 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1310067676
rs1310067676
1 1.000 0.120 7 94423024 missense variant A/G snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs137853892
rs137853892
2 0.925 0.120 11 75566582 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs141053928
rs141053928
1 1.000 0.120 14 39055285 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs193922139
rs193922139
2 0.925 0.120 17 50195227 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs318240762
rs318240762
2 0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs373772486
rs373772486
1 1.000 0.120 20 38147984 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 1991 1991
dbSNP: rs66548636
rs66548636
2 0.925 0.120 17 50195469 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs66612022
rs66612022
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs66664580
rs66664580
2 0.925 0.120 17 50195967 missense variant C/A;T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs67507747
rs67507747
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.710 1.000 1 2001 2001
dbSNP: rs67771061
rs67771061
2 0.925 0.120 17 50188776 missense variant C/A;G;T snv 0.010 1.000 1 1992 1992