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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.942 52 1996 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.857 14 1998 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.917 12 2000 2019
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.760 0.857 7 2008 2019
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.070 0.857 7 2002 2016
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.040 1.000 4 2007 2009
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 0.667 3 2006 2014
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.030 0.667 3 2011 2020
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.030 0.667 3 1998 2019
dbSNP: rs10911021
rs10911021
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.710 1.000 2 2013 2016
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2014 2017
dbSNP: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.020 1.000 2 2012 2019
dbSNP: rs6136
rs6136
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.020 1.000 2 2007 2017
dbSNP: rs11206510
rs11206510
16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1149643
rs1149643
1 1 56163763 intron variant A/T snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 1996 1996
dbSNP: rs12042319
rs12042319
6 1.000 0.040 1 62584148 3 prime UTR variant G/A snv 0.36 0.700 1.000 1 2008 2008
dbSNP: rs12731208
rs12731208
1 1 6616425 intron variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12740374
rs12740374
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs12746200
rs12746200
6 0.851 0.160 1 186880054 intron variant A/G snv 7.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs12758407
rs12758407
1 1 42041342 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1361600
rs1361600
3 0.925 0.120 1 94542362 upstream gene variant C/T snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs137852912
rs137852912
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs145886902
rs145886902
1 1 55040006 stop gained G/A;T snv 1.9E-04 0.010 1.000 1 2018 2018