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: rs17857295
rs17857295
1 1.000 0.080 20 3857794 stop gained C/A;G;T snv 1.6E-05; 0.29; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3124954
rs3124954
1 1.000 0.080 9 134881650 intron variant C/T snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1800897
rs1800897
2 0.925 0.240 10 100809115 synonymous variant C/T snv 7.4E-02 0.13 0.010 1.000 1 2015 2015
dbSNP: rs2326369
rs2326369
2 0.925 0.160 20 3862337 synonymous variant C/T snv 9.2E-02 0.11 0.010 1.000 1 2011 2011
dbSNP: rs10847697
rs10847697
3 0.882 0.200 12 128814840 synonymous variant G/A snv 0.13 9.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs13385731
rs13385731
3 0.882 0.200 2 33476823 intron variant T/C snv 6.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs35366573
rs35366573
3 0.882 0.120 1 207785101 missense variant C/T snv 1.5E-02 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs6682654
rs6682654
3 0.882 0.320 1 160839213 intron variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs104886308
rs104886308
4 0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs3766379
rs3766379
4 0.851 0.320 1 160837925 intron variant T/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs10127939
rs10127939
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs6590330
rs6590330
5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1556445736
rs1556445736
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0
dbSNP: rs2230911
rs2230911
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 < 0.001 1 2013 2013
dbSNP: rs1053874
rs1053874
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11864909
rs11864909
7 0.851 0.160 16 20389517 intron variant C/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs4958881
rs4958881
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs4917014
rs4917014
8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3758391
rs3758391
11 0.742 0.480 10 67883584 upstream gene variant T/C snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs3819025
rs3819025
11 0.752 0.480 6 52186476 intron variant G/A snv 0.13 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.020 1.000 2 2014 2018