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: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.900 0.979 97 2006 2019
dbSNP: rs11200638
rs11200638
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.900 0.900 50 2006 2019
dbSNP: rs9332739
rs9332739
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.860 1.000 8 2006 2018
dbSNP: rs1329428
rs1329428
CFH
9 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.830 1.000 6 2006 2019
dbSNP: rs1467528955
rs1467528955
1 1.000 0.040 6 31933767 missense variant G/A snv 1.2E-05 7.0E-06 0.040 1.000 4 2006 2010
dbSNP: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.040 1.000 4 2006 2019
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.720 1.000 3 2006 2018
dbSNP: rs757537938
rs757537938
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.030 1.000 3 2006 2009
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs121434303
rs121434303
3 0.882 0.120 14 91870336 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs141138308
rs141138308
1 1.000 0.040 6 43780784 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs148957473
rs148957473
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs752907384
rs752907384
6 0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs80338766
rs80338766
3 0.882 0.120 14 91887283 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs641153
rs641153
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.900 0.947 19 2007 2019
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.900 0.929 14 2007 2019
dbSNP: rs547154
rs547154
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.100 1.000 14 2007 2018
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.080 1.000 8 2007 2018
dbSNP: rs1061147
rs1061147
CFH
1 1.000 0.040 1 196685194 synonymous variant A/C snv 0.68 0.62 0.810 1.000 2 2007 2013
dbSNP: rs138195505
rs138195505
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.020 1.000 2 2007 2012
dbSNP: rs4146894
rs4146894
1 1.000 0.040 10 122395865 intron variant C/T snv 0.48 0.710 1.000 2 2007 2013
dbSNP: rs10272438
rs10272438
1 1.000 0.040 7 33199222 intron variant A/G snv 0.19 0.010 < 0.001 1 2007 2007
dbSNP: rs10521496
rs10521496
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs3024997
rs3024997
3 0.882 0.120 6 43777370 non coding transcript exon variant G/A snv 0.31 0.010 1.000 1 2007 2007
dbSNP: rs2511989
rs2511989
3 0.882 0.160 11 57610852 intron variant C/T snv 0.39 0.070 0.714 7 2008 2015