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: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 1.000 2 2010 2020
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2010 2016
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2020 2020
dbSNP: rs12048215
rs12048215
3 0.882 0.160 1 247421289 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs17602729
rs17602729
2 0.925 0.080 1 114693436 stop gained G/A;T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1764390
rs1764390
3 0.882 0.160 1 34794360 missense variant A/C;G;T snv 0.61 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1891320
rs1891320
2 0.925 0.080 1 19970618 upstream gene variant C/T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs2027432
rs2027432
3 0.882 0.160 1 247415139 upstream gene variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2808630
rs2808630
13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2018 2018
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs5744105
rs5744105
2 0.925 0.080 1 223142735 intron variant G/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2014 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2014 2014
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11684747
rs11684747
2 0.925 0.080 2 9557042 upstream gene variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11689958
rs11689958
2 0.925 0.080 2 9557277 upstream gene variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs12692386
rs12692386
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs1524668
rs1524668
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 1.000 1 2016 2016