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: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs1015443
rs1015443
2 0.925 0.160 12 10908523 missense variant T/A;C snv 4.0E-06; 0.59 0.010 1.000 1 2012 2012
dbSNP: rs3782025
rs3782025
4 0.882 0.080 11 113936885 intron variant G/A snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6990313
rs6990313
1 1.000 0.080 8 11712527 intron variant G/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs10112596
rs10112596
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs11250159
rs11250159
1 1.000 0.080 8 11729725 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17153694
rs17153694
4 0.851 0.160 8 11730972 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs463379
rs463379
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.010 < 0.001 1 2009 2009
dbSNP: rs6350
rs6350
3 0.882 0.080 5 1443084 missense variant G/A;C snv 5.6E-02; 6.8E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs17777298
rs17777298
1 1.000 0.080 5 148541962 intron variant T/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs10044881
rs10044881
1 1.000 0.080 5 148645656 non coding transcript exon variant T/C snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.070 0.857 7 2010 2018
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs4532
rs4532
7 0.827 0.160 5 175443147 5 prime UTR variant C/T snv 0.68 0.72 0.010 1.000 1 2019 2019
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2019 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2019 2019
dbSNP: rs56013859
rs56013859
2 0.925 0.080 2 238276865 intron variant T/C snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs7958822
rs7958822
6 0.807 0.200 12 27348173 intron variant G/A snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs4964057
rs4964057
3 0.882 0.080 12 27363909 intron variant T/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs2306073
rs2306073
4 0.882 0.080 12 27402904 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2010 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2010 2018
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.020 1.000 2 2015 2016
dbSNP: rs916264
rs916264
1 1.000 0.080 22 36237790 intron variant A/C;T snv 0.010 1.000 1 2020 2020