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: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.100 1.000 17 1998 2018
dbSNP: rs662
rs662
71 0.561 0.607 7 95308134 missense variant T/C snp 0.38 0.41 0.090 0.889 9 1998 2018
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.060 1.000 6 2003 2006
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.050 1.000 5 2001 2010
dbSNP: rs16139
rs16139
27 0.657 0.500 7 24285260 missense variant T/A,C snp 4.0E-06; 3.0E-02 3.2E-02 0.040 1.000 4 2002 2013
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.040 1.000 4 2005 2013
dbSNP: rs1805192
rs1805192
75 0.545 0.679 3 12379739 missense variant C/G snp 0.040 1.000 4 2005 2013
dbSNP: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.040 0.750 4 2003 2005
dbSNP: rs72653706
rs72653706
16 0.734 0.179 16 16163078 stop gained G/A snp 1.4E-03 1.3E-03 0.040 1.000 4 2002 2014
dbSNP: rs854560
rs854560
51 0.599 0.500 7 95316772 missense variant A/C,G,N,T snp 0.29 0.29 0.040 0.750 4 2002 2018
dbSNP: rs17465637
rs17465637
10 0.784 0.143 1 222650187 intron variant A/C,G,T snp 0.64; 6.4E-06 0.59 0.030 1.000 3 2011 2014
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 2002 2010
dbSNP: rs1800588
rs1800588
9 0.821 0.071 15 58431476 intron variant C/G,T snp 0.30 0.32 0.030 1.000 3 2008 2014
dbSNP: rs20455
rs20455
10 0.769 0.107 6 39357302 missense variant A/G snp 0.41 0.49 0.030 1.000 3 2008 2013
dbSNP: rs2230806
rs2230806
18 0.715 0.214 9 104858586 missense variant C/T snp 0.32 0.37 0.030 1.000 3 2004 2011
dbSNP: rs671
rs671
61 0.593 0.464 12 111803962 missense variant G/A snp 1.9E-02 1.3E-02 0.030 1.000 3 2010 2015
dbSNP: rs1061170
rs1061170
CFH
53 0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63 0.020 1.000 2 2006 2007
dbSNP: rs116843064
rs116843064
13 0.784 0.036 19 8364439 missense variant G/A snp 1.3E-02 1.5E-02 0.020 1.000 2 2016 2016
dbSNP: rs147377392
rs147377392
5 0.821 0.036 20 23048144 missense variant A/G snp 1.0E-04 2.5E-04 0.020 1.000 2 2001 2005
dbSNP: rs1801394
rs1801394
60 0.577 0.643 5 7870860 missense variant A/G snp 0.47 0.46 0.020 1.000 2 2003 2005
dbSNP: rs201058276
rs201058276
F7
17 0.724 0.214 13 113118731 missense variant G/A,C snp 4.8E-05; 4.0E-06 9.6E-05 0.020 1.000 2 2005 2009
dbSNP: rs2228262
rs2228262
7 0.801 0.071 15 39589977 missense variant A/G snp 7.9E-02 8.5E-02 0.020 1.000 2 2002 2003
dbSNP: rs2234693
rs2234693
50 0.590 0.571 6 151842200 intron variant T/C snp 0.47 0.020 0.500 2 2006 2010
dbSNP: rs266729
rs266729
21 0.679 0.429 3 186841685 intergenic variant C/A,G,T snp 6.4E-05; 0.23 0.020 1.000 2 2011 2012
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.020 1.000 2 2010 2014