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: rs6264
rs6264
DDC
2 0.925 0.040 7 50544037 missense variant T/C snv 1.00 0.99 0.010 1.000 1 2016 2016
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.020 1.000 2 2011 2015
dbSNP: rs2227956
rs2227956
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.010 1.000 1 2010 2010
dbSNP: rs2653349
rs2653349
5 0.882 0.120 6 55277539 missense variant A/G;T snv 0.84; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs140504
rs140504
3 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2011 2011
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2013 2013
dbSNP: rs1390938
rs1390938
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2017 2017
dbSNP: rs2307223
rs2307223
2 0.925 0.040 12 79621127 missense variant A/C;T snv 0.10; 0.70 0.010 1.000 1 2011 2011
dbSNP: rs3736544
rs3736544
4 0.882 0.160 4 55443825 synonymous variant A/G snv 0.70 0.69 0.010 1.000 1 2009 2009
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2016 2016
dbSNP: rs4302506
rs4302506
1 1.000 0.040 4 157317678 synonymous variant T/C snv 0.67 0.62 0.010 1.000 1 2012 2012
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2018 2018
dbSNP: rs6323
rs6323
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2010 2010
dbSNP: rs2816881
rs2816881
1 1.000 0.040 1 90020853 synonymous variant T/G snv 0.63 0.62 0.010 1.000 1 2012 2012
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2073376
rs2073376
1 1.000 0.040 21 46431839 missense variant A/G snv 0.63 0.67 0.010 1.000 1 2009 2009
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.030 1.000 3 2009 2016
dbSNP: rs10922744
rs10922744
1 1.000 0.040 1 90027467 synonymous variant G/A snv 0.61; 1.2E-05 0.57 0.010 1.000 1 2012 2012
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.020 1.000 2 2017 2018
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2010 2010
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 0.333 3 2007 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2014 2019
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.010 < 0.001 1 2011 2011