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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2003 2003
dbSNP: rs1064794243
rs1064794243
5 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
dbSNP: rs137854607
rs137854607
5 0.882 0.120 3 38554309 missense variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
dbSNP: rs11549029
rs11549029
1 19 35756950 missense variant G/A snv 8.9E-04 1.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs41310765
rs41310765
5 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs28935490
rs28935490
3 1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06 0.010 1.000 1 2009 2009
dbSNP: rs2968857
rs2968857
2 1.000 0.080 7 150965242 intron variant C/T snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs59270054
rs59270054
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs7493
rs7493
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2004 2011
dbSNP: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs9818870
rs9818870
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs121918460
rs121918460
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 3 2002 2012
dbSNP: rs104894833
rs104894833
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 < 0.001 1 2012 2012
dbSNP: rs373721390
rs373721390
1 1 156114996 synonymous variant C/T snv 2.2E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs58034145
rs58034145
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1904694
rs1904694
1 10 51145734 intron variant A/G snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs121909298
rs121909298
4 0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014