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: 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: 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: 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: rs6473797
rs6473797
2 0.925 0.080 8 53240422 intron variant T/C snv 0.39 0.010 1.000 1 2020 2020
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: 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: 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: rs3782025
rs3782025
4 0.882 0.080 11 113936885 intron variant G/A snv 0.55 0.010 1.000 1 2009 2009
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: rs2306073
rs2306073
4 0.882 0.080 12 27402904 intron variant C/T snv 0.37 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: rs7958822
rs7958822
6 0.807 0.200 12 27348173 intron variant G/A snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs10405681
rs10405681
1 1.000 0.080 19 3634021 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10419980
rs10419980
1 1.000 0.080 19 3685118 intron variant C/T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs10432303
rs10432303
1 1.000 0.080 19 3656654 intron variant G/A snv 0.41 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: rs4807493
rs4807493
1 1.000 0.080 19 3631038 3 prime UTR variant A/G snv 0.84 0.010 1.000 1 2018 2018
dbSNP: rs8109485
rs8109485
1 1.000 0.080 19 3664096 intron variant A/G snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs2836016
rs2836016
2 0.925 0.080 21 37840718 intron variant G/A snv 0.59 0.58 0.010 1.000 1 2011 2011