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: rs380390
rs380390
CFH
2 0.925 0.160 1 196731921 intron variant G/A;C;T snv 0.810 1.000 4 2005 2013
dbSNP: rs3750848
rs3750848
1 1.000 0.040 10 122455799 intron variant T/G snv 0.23 0.810 1.000 3 2010 2013
dbSNP: rs541862
rs541862
3 0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12 0.810 1.000 3 2012 2013
dbSNP: rs8135665
rs8135665
4 0.851 0.040 22 38080269 intron variant C/T snv 0.24 0.810 1.000 3 2013 2019
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: rs13081855
rs13081855
1 1.000 0.040 3 99762695 intron variant G/T snv 8.0E-02 0.810 1.000 2 2013 2019
dbSNP: rs1864163
rs1864163
10 0.882 0.120 16 56963321 intron variant G/A snv 0.26 0.810 1.000 2 2013 2019
dbSNP: rs2285714
rs2285714
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.810 0.500 2 2010 2019
dbSNP: rs3130783
rs3130783
1 1.000 0.040 6 30806580 intron variant G/A;T snv 0.810 1.000 2 2013 2019
dbSNP: rs334353
rs334353
1 1.000 0.040 9 99146083 intron variant T/G snv 0.25 0.810 1.000 2 2013 2019
dbSNP: rs3812111
rs3812111
1 1.000 0.040 6 116122572 intron variant T/A snv 0.47 0.810 1.000 2 2013 2019
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.810 1.000 2 2013 2019
dbSNP: rs4698775
rs4698775
1 1.000 0.040 4 109669323 intron variant G/A;T snv 0.810 1.000 2 2013 2019
dbSNP: rs920915
rs920915
2 1.000 0.040 15 58396268 intron variant C/G snv 0.55 0.810 1.000 2 2013 2019
dbSNP: rs2071277
rs2071277
3 0.882 0.200 6 32203906 intron variant T/C snv 0.48 0.46 0.810 1.000 1 2012 2012
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.800 1.000 4 2010 2013
dbSNP: rs10801555
rs10801555
CFH
1 1.000 0.040 1 196691131 intron variant A/G snv 0.64 0.800 1.000 4 2011 2013
dbSNP: rs10733086
rs10733086
CFH
1 1.000 0.040 1 196707805 intron variant A/C;T snv 0.800 1.000 3 2013 2018
dbSNP: rs1329424
rs1329424
CFH
1 1.000 0.040 1 196677046 non coding transcript exon variant T/G snv 0.66 0.800 1.000 2 2010 2013
dbSNP: rs1831282
rs1831282
CFH
2 1.000 0.040 1 196704863 intron variant A/C snv 0.62 0.800 1.000 2 2013 2013
dbSNP: rs2284665
rs2284665
3 0.882 0.040 10 122467114 intron variant G/A;T snv 0.800 1.000 2 2013 2018
dbSNP: rs11755724
rs11755724
7 0.807 0.320 6 7118757 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs17050244
rs17050244
1 1.000 0.040 2 120525054 regulatory region variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs406936
rs406936
3 0.882 0.240 6 31965384 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs522162
rs522162
2 0.925 0.160 6 31952140 3 prime UTR variant T/C snv 0.12 0.800 1.000 1 2013 2013