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: rs1883414
rs1883414
3 0.923 0.179 6 33118671 non coding transcript exon variant G/A snp 0.27 0.800 1 2011 2011
dbSNP: rs2412971
rs2412971
2 1.000 0.107 22 30098382 intron variant G/A snp 0.54 0.800 1 2011 2011
dbSNP: rs3115573
rs3115573
2 1.000 0.107 6 32251066 intergenic variant A/G snp 0.39 0.800 1 2010 2010
dbSNP: rs6677604
rs6677604
CFH
5 0.878 0.179 1 196717788 intron variant G/A snp 0.22 0.800 1 2011 2011
dbSNP: rs9275596
rs9275596
6 0.846 0.286 6 32713854 intergenic variant C/T snp 0.65 0.800 1 2011 2011
dbSNP: rs9357155
rs9357155
2 1.000 0.107 6 32842071 intron variant G/A,C snp 0.11 0.800 1 2011 2011
dbSNP: rs2856717
rs2856717
3 0.923 0.143 6 32702531 intergenic variant A/G snp 0.63 0.700 1 2011 2011
dbSNP: rs9275224
rs9275224
5 0.846 0.214 6 32692101 regulatory region variant A/G snp 0.54 0.700 1 2011 2011
dbSNP: rs9275424
rs9275424
1 6 32702799 intergenic variant A/G snp 0.30 0.700 1 2011 2011
dbSNP: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.070 1.000 7 2008 2015
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.030 1.000 3 2001 2015
dbSNP: rs5443
rs5443
65 0.570 0.571 12 6845711 synonymous variant C/T snp 0.36 0.43 0.030 1.000 3 1999 2000
dbSNP: rs17880135
rs17880135
1 21 31669690 intergenic variant T/G snp 4.3E-02 0.020 1.000 2 2008 2012
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.020 1.000 2 2005 2015
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.020 1.000 2 2007 2012
dbSNP: rs1805192
rs1805192
75 0.545 0.679 3 12379739 missense variant C/G snp 0.020 1.000 2 2007 2012
dbSNP: rs4880
rs4880
81 0.536 0.643 6 159692840 missense variant A/G snp 0.48 0.47 0.020 1.000 2 2010 2015
dbSNP: rs1041740
rs1041740
3 1.000 0.036 21 31667849 intron variant C/T snp 0.23 0.010 1.000 1 2012 2012
dbSNP: rs10521145
rs10521145
1 16 28585563 intron variant G/A snp 9.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs1063537
rs1063537
2 1.000 0.107 3 186856286 3 prime UTR variant C/T snp 8.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1063856
rs1063856
VWF
7 0.878 0.179 12 6044368 missense variant T/C,G snp 0.31 0.40 0.010 < 0.001 1 2000 2000
dbSNP: rs11089788
rs11089788
5 0.846 0.107 22 36355056 intron variant C/A snp 0.46 0.010 1.000 1 2013 2013
dbSNP: rs11122576
rs11122576
AGT
2 1.000 0.071 1 230710933 intron variant T/C snp 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1143679
rs1143679
11 0.756 0.393 16 31265490 missense variant G/A snp 9.7E-02 0.11 0.010 1.000 1 2010 2010
dbSNP: rs11549465
rs11549465
27 0.662 0.357 14 61740839 missense variant C/T snp 8.8E-02 7.0E-02 0.010 1.000 1 2013 2013