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: rs426736
rs426736
2 1.000 0.040 1 196791287 intron variant A/G snv 0.28 0.800 1.000 1 2010 2010
dbSNP: rs10749071
rs10749071
1 10 111334279 intergenic variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs10838427
rs10838427
1 11 45160131 intron variant C/T snv 0.30 0.700 1.000 1 2010 2010
dbSNP: rs11728925
rs11728925
1 4 41711648 intergenic variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1299491
rs1299491
1 19 49916142 intron variant A/C snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs13070790
rs13070790
1 3 105417143 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1749824
rs1749824
3 0.925 0.080 10 79164105 intron variant C/A snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs1792624
rs1792624
1 11 94188644 non coding transcript exon variant G/A snv 0.31 0.700 1.000 1 2010 2010
dbSNP: rs2244614
rs2244614
1 16 55810705 intron variant G/A snv 0.52 0.50 0.700 1.000 1 2010 2010
dbSNP: rs2406176
rs2406176
1 21 18347109 intron variant T/G snv 0.72 0.700 1.000 1 2010 2010
dbSNP: rs2420864
rs2420864
1 2 124459809 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs4556879
rs4556879
1 18 74138268 intron variant C/T snv 4.3E-02 0.700 1.000 1 2010 2010
dbSNP: rs4809944
rs4809944
1 20 53885423 TF binding site variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs4897668
rs4897668
1 8 134018372 intergenic variant A/G snv 0.46 0.700 1.000 1 2010 2010
dbSNP: rs4972431
rs4972431
1 2 174134460 intron variant C/T snv 0.53 0.700 1.000 1 2010 2010
dbSNP: rs4976846
rs4976846
1 13 109168863 intron variant T/C snv 0.29 0.700 1.000 1 2010 2010
dbSNP: rs655683
rs655683
1 11 88943686 intron variant G/T snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs7830326
rs7830326
1 8 39210657 intron variant A/G snv 0.46 0.700 1.000 1 2010 2010
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2001 2009
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2016 2016
dbSNP: rs112959008
rs112959008
C5
1 9 121030401 missense variant C/G;T snv 3.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs11913168
rs11913168
1 22 30210575 upstream gene variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs121909588
rs121909588
C5
2 1.000 0.080 9 120962749 stop gained G/A snv 7.6E-05 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs121964921
rs121964921
C7
2 1.000 0.080 5 40955428 missense variant G/A;C;T snv 1.6E-05; 1.3E-04; 5.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs1265538677
rs1265538677
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004