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: 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: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2010 2010
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: 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: rs3766379
rs3766379
4 0.851 0.320 1 160837925 intron variant T/C snv 0.57 0.010 1.000 1 2010 2010
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: 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: rs4958881
rs4958881
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs6590330
rs6590330
5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2010 2010
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: rs6682654
rs6682654
3 0.882 0.320 1 160839213 intron variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2016 2016
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: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2011 2011