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: rs3803800
rs3803800
7 0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64 0.830 1.000 4 2011 2017
dbSNP: rs2738048
rs2738048
1 1.000 0.120 8 6965263 downstream gene variant A/G snv 0.28 0.810 1.000 4 2011 2015
dbSNP: rs660895
rs660895
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.810 1.000 2 2011 2015
dbSNP: rs12537
rs12537
5 0.827 0.280 22 30027471 3 prime UTR variant C/T snv 0.40 0.800 1.000 2 2011 2015
dbSNP: rs2523946
rs2523946
2 0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv 0.800 1.000 2 2011 2015
dbSNP: rs1794275
rs1794275
2 1.000 0.120 6 32703471 downstream gene variant G/A snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs4227
rs4227
2 1.000 0.120 17 7587859 3 prime UTR variant G/T snv 0.71 0.67 0.800 1.000 1 2011 2011
dbSNP: rs4849121
rs4849121
3 0.925 0.160 2 110842129 intron variant G/A snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.750 1.000 6 2014 2020
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.720 1.000 3 2015 2020
dbSNP: rs9275596
rs9275596
7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.720 1.000 3 2014 2017
dbSNP: rs12716641
rs12716641
1 1.000 0.120 8 7041476 upstream gene variant T/A;C snv 0.710 1.000 2 2014 2015
dbSNP: rs17019602
rs17019602
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs2412971
rs2412971
5 0.882 0.320 22 30098382 intron variant G/A snv 0.55 0.710 1.000 2 2014 2017
dbSNP: rs2738058
rs2738058
2 0.925 0.160 8 6964095 upstream gene variant T/C snv 0.57 0.710 1.000 2 2014 2015
dbSNP: rs2856717
rs2856717
2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.710 1.000 2 2014 2017
dbSNP: rs4077515
rs4077515
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.710 1.000 2 2014 2017
dbSNP: rs7190997
rs7190997
2 1.000 0.120 16 31356857 intron variant T/C snv 0.52 0.710 1.000 2 2015 2019
dbSNP: rs10086568
rs10086568
2 1.000 0.120 8 7042814 upstream gene variant G/A snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs11150612
rs11150612
1 1.000 0.120 16 31346439 intergenic variant G/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs11574637
rs11574637
3 0.882 0.200 16 31357553 missense variant T/C snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs1883414
rs1883414
3 0.925 0.200 6 33118671 non coding transcript exon variant G/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs2033562
rs2033562
1 1.000 0.120 8 102535511 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2071543
rs2071543
4 0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13 0.700 1.000 1 2014 2014
dbSNP: rs2074038
rs2074038
1 1.000 0.120 11 44066439 5 prime UTR variant G/T snv 8.4E-02 0.700 1.000 1 2015 2015