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: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121917901
rs121917901
7 0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 0.700 0
dbSNP: rs121917902
rs121917902
7 0.790 0.440 10 49524073 stop gained G/A snv 0.700 0
dbSNP: rs1324578301
rs1324578301
1 1.000 0.080 9 85020233 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs180177042
rs180177042
8 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs1805076
rs1805076
7 0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 0.700 0
dbSNP: rs2071460
rs2071460
1 1.000 0.080 11 11352722 missense variant A/G snv 0.48 0.41 0.700 0
dbSNP: rs372594677
rs372594677
1 1.000 0.080 3 89472571 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs373227647
rs373227647
7 0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs376526037
rs376526037
8 0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs387906660
rs387906660
7 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
dbSNP: rs387906661
rs387906661
6 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
dbSNP: rs397507466
rs397507466
6 0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs397516895
rs397516895
5 0.827 0.280 7 140753392 missense variant A/T snv 0.700 0
dbSNP: rs540635787
rs540635787
4 0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 0.700 0
dbSNP: rs587782705
rs587782705
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs36600
rs36600
5 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.710 1.000 1 2011 2011
dbSNP: rs1011970
rs1011970
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10436951
rs10436951
1 1.000 0.080 1 243199378 intron variant A/G snv 7.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs1057520015
rs1057520015
2 1.000 0.080 18 20955181 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520037
rs1057520037
1 1.000 0.080 7 55174782 missense variant G/C snv 0.700 1.000 1 2005 2005
dbSNP: rs1057941
rs1057941
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs10849605
rs10849605
4 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.700 1.000 1 2012 2012