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: rs1878406
rs1878406
7 0.807 0.200 4 147472512 intergenic variant C/A;G;T snv 0.810 0.500 2 2011 2014
dbSNP: rs11781551
rs11781551
1 1.000 0.040 8 122395852 intergenic variant G/A snv 0.40 0.800 1.000 1 2011 2011
dbSNP: rs17045031
rs17045031
1 1.000 0.040 3 66717940 intergenic variant G/A snv 0.10 0.800 1.000 1 2011 2011
dbSNP: rs17398575
rs17398575
3 0.882 0.040 7 106769006 intron variant G/A snv 0.20 0.800 1.000 1 2011 2011
dbSNP: rs445925
rs445925
10 0.882 0.080 19 44912383 non coding transcript exon variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs4712972
rs4712972
3 0.882 0.160 6 25771819 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs6511720
rs6511720
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.800 1.000 1 2011 2011
dbSNP: rs6601530
rs6601530
1 1.000 0.040 8 10813762 intron variant G/A snv 0.61 0.800 1.000 1 2011 2011
dbSNP: rs10276782
rs10276782
1 1.000 0.040 7 24765621 regulatory region variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs4888378
rs4888378
4 0.851 0.040 16 75298143 intron variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs4901536
rs4901536
2 0.925 0.080 14 54733816 intron variant T/C snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 2000 2013
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.818 11 1999 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2002 2012
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.070 1.000 7 1999 2019
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.060 1.000 6 1999 2012
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 1.000 6 2001 2019
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.050 1.000 5 2001 2019
dbSNP: rs10846744
rs10846744
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.040 0.750 4 2010 2018
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.040 1.000 4 2001 2012
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 1998 2019
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.040 1.000 4 2005 2016
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.040 1.000 4 2001 2020
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 1.000 4 2002 2008
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.030 1.000 3 2008 2012