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: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.060 1.000 6 2013 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: 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: rs10405681
rs10405681
1 1.000 0.080 19 3634021 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs11240
rs11240
2 0.925 0.080 4 55453183 3 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11250159
rs11250159
1 1.000 0.080 8 11729725 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1476592
rs1476592
1 1.000 0.080 19 3679742 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2074957
rs2074957
1 1.000 0.080 19 3653527 synonymous variant C/A;T snv 8.0E-06; 0.57 0.010 1.000 1 2018 2018
dbSNP: rs4432372
rs4432372
1 1.000 0.080 19 3698844 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2010 2010
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: rs6923761
rs6923761
4 0.851 0.200 6 39066296 missense variant G/A;C snv 0.23; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs916264
rs916264
1 1.000 0.080 22 36237790 intron variant A/C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs141973904
rs141973904
1 1.000 0.080 4 99341085 intron variant C/T snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs3756007
rs3756007
2 1.000 0.080 4 46389047 5 prime UTR variant T/C snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.010 1.000 1 2018 2018
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: rs2119183
rs2119183
2 1.000 0.080 4 46270789 intron variant G/A snv 7.6E-02 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: rs17153694
rs17153694
4 0.851 0.160 8 11730972 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs11941860
rs11941860
2 1.000 0.080 4 46080161 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
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