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: rs544456198
rs544456198
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs752596535
rs752596535
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.833 6 2004 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 0.500 2 2004 2009
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 0.500 2 2004 2009
dbSNP: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs1866389
rs1866389
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 < 0.001 1 2004 2004
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.060 1.000 6 2005 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.060 1.000 6 2005 2012
dbSNP: rs505151
rs505151
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.040 0.750 4 2005 2015
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.030 0.667 3 2005 2013
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 2005 2014
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2005 2013
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2005 2005
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2005 2005
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs371150372
rs371150372
CAD
3 0.882 0.040 2 27223972 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs532997003
rs532997003
3 0.882 0.040 9 104840464 missense variant T/C snv 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs763172697
rs763172697
CAD
3 0.882 0.040 2 27233526 missense variant G/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs772132247
rs772132247
LPL
3 0.882 0.040 8 19959292 missense variant G/A snv 5.2E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs774232279
rs774232279
3 0.882 0.040 15 58548572 missense variant G/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.040 1.000 4 2006 2011
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006