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: 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: 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: 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
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2010 2010
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: 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: rs3766379
rs3766379
4 0.851 0.320 1 160837925 intron variant T/C snv 0.57 0.010 1.000 1 2010 2010
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: rs6590330
rs6590330
5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2010 2010
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: 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: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2006 2006
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: rs1556445736
rs1556445736
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0