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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.818 11 1997 2015
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.750 1.000 6 2014 2020
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.720 1.000 3 2015 2020
dbSNP: rs11264794
rs11264794
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs17019602
rs17019602
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs1001703993
rs1001703993
3 0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs11102930
rs11102930
2 0.925 0.160 1 115338434 intron variant G/A snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs11264793
rs11264793
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs12022418
rs12022418
1 1.000 0.120 1 192565977 intron variant C/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2012 2012
dbSNP: rs3795299
rs3795299
2 0.925 0.200 1 24120978 missense variant G/A;C;T snv 9.6E-05; 0.42; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs6691569
rs6691569
1 1.000 0.120 1 157678308 3 prime UTR variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs7522061
rs7522061
4 0.882 0.320 1 157698600 missense variant T/C;G snv 0.45 0.51 0.010 1.000 1 2020 2020
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2018 2018
dbSNP: rs10490571
rs10490571
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs12615793
rs12615793
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1369270
rs1369270
1 1.000 0.120 2 153179546 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs140433921
rs140433921
1 1.000 0.120 2 44286102 start lost T/C snv 2.0E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs3218896
rs3218896
6 0.807 0.160 2 102015190 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs3218977
rs3218977
6 0.807 0.240 2 102024739 3 prime UTR variant A/G snv 0.14 0.010 1.000 1 2017 2017