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: rs11225055
rs11225055
1 1.000 0.120 11 101900702 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs62131887
rs62131887
14 0.724 0.240 19 10476920 intergenic variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs12708716
rs12708716
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs12917716
rs12917716
4 0.851 0.200 16 11095291 intron variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs6498169
rs6498169
6 0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs653178
rs653178
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.010 1.000 1 2010 2010
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015
dbSNP: rs2488457
rs2488457
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4246905
rs4246905
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs12046117
rs12046117
1 1.000 0.120 1 117208743 intron variant C/T snv 0.16 0.800 1.000 1 2009 2009
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2015
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2005 2015
dbSNP: rs757278
rs757278
1 1.000 0.120 7 117737591 intron variant G/T snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2010
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs4688011
rs4688011
1 1.000 0.120 3 119508400 intron variant G/A;C snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs62324212
rs62324212
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs7042370
rs7042370
14 0.724 0.240 9 12785074 intron variant T/C snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs16939895
rs16939895
1 1.000 0.120 18 12821904 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012