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: rs7586970
rs7586970
2 0.925 0.040 2 187478770 missense variant T/C;G snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs764948729
rs764948729
PLG
3 0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121918474
rs121918474
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.030 1.000 3 2006 2010
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.020 1.000 2 2007 2010
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2006 2010
dbSNP: rs121909613
rs121909613
FGA
5 0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2000813
rs2000813
9 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs2097055
rs2097055
2 0.925 0.040 18 49569117 intron variant T/C snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs6507931
rs6507931
3 0.882 0.080 18 49586638 intron variant C/T snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs1800386
rs1800386
VWF
5 0.851 0.120 12 6018667 missense variant T/C snv 2.7E-03 2.3E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs747301897
rs747301897
3 1.000 0.040 19 45363999 synonymous variant G/A snv 7.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2010 2013
dbSNP: rs2227721
rs2227721
2 0.925 0.080 17 28370430 intron variant C/A;T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 1.000 2 2005 2014
dbSNP: rs773761677
rs773761677
1 1.000 0.040 2 127428444 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 1.000 9 1999 2015
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2009 2015
dbSNP: rs1131012
rs1131012
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1248438558
rs1248438558
F10
2 0.925 0.120 13 113149020 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1255283120
rs1255283120
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12953
rs12953
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs573703484
rs573703484
1 1.000 0.040 17 81845659 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs752714051
rs752714051
PC
1 1.000 0.040 11 66871317 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.730 1.000 4 1998 2016