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: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.020 1.000 2 2002 2006
dbSNP: rs1047521
rs1047521
1 1.000 0.036 18 75197550 3 prime UTR variant C/A snp 0.56 0.010 1.000 1 2014 2014
dbSNP: rs1338993
rs1338993
1 1.000 0.036 1 164261826 intergenic variant T/A,C snp 0.40 0.010 1.000 1 2014 2014
dbSNP: rs2958182
rs2958182
5 0.878 0.036 18 55481790 intron variant A/T snp 0.71 0.010 1.000 1 2016 2016
dbSNP: rs334558
rs334558
11 0.744 0.107 3 120094435 regulatory region variant A/G snp 0.52 0.010 1.000 1 2011 2011
dbSNP: rs3754860
rs3754860
1 1.000 0.036 2 25170385 intergenic variant C/T snp 0.23 0.010 1.000 1 2014 2014
dbSNP: rs41279104
rs41279104
4 0.846 0.107 12 117439680 intron variant C/T snp 0.11 0.010 1.000 1 2011 2011
dbSNP: rs4402960
rs4402960
12 0.756 0.286 3 185793899 intron variant G/T snp 0.38 0.010 1.000 1 2013 2013
dbSNP: rs6994992
rs6994992
8 0.846 0.036 8 31638065 intergenic variant C/A,T snp 3.2E-05; 0.41 0.010 < 0.001 1 2008 2008