Source: ALL
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: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.020 0.500 2 2018 2019
dbSNP: rs1915087
rs1915087
2 0.925 0.080 3 122119944 3 prime UTR variant T/C snv 0.020 1.000 2 2015 2018
dbSNP: rs17281995
rs17281995
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2332096
rs2332096
2 0.925 0.080 3 122102296 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.020 1.000 2 2018 2019
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: 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: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2018 2018
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: 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: 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: rs1475145065
rs1475145065
3 0.882 0.080 14 24574706 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2297630
rs2297630
6 0.827 0.160 10 44376100 intron variant G/A;T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2839693
rs2839693
3 0.882 0.120 10 44379119 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs805305
rs805305
3 0.882 0.120 6 31729610 intron variant C/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs1799946
rs1799946
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2014 2014
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs17446614
rs17446614
5 0.851 0.240 13 40565740 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs2721068
rs2721068
4 0.882 0.160 13 40565575 intron variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs11666254
rs11666254
2 0.925 0.080 19 51759909 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2808530
rs2808530
2 0.925 0.080 9 98576823 intron variant A/C snv 0.12 0.010 1.000 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