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: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
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: rs7537605
rs7537605
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2153977
rs2153977
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.700 1.000 1 2015 2015
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 0.720 1.000 4 2006 2015
dbSNP: rs2358994
rs2358994
2 0.925 0.120 1 113886839 intron variant G/A snv 0.16 0.700 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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs7679475
rs7679475
2 0.925 0.120 4 121392885 intergenic variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs62324212
rs62324212
15 0.724 0.240 4 122639784 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1534422
rs1534422
6 0.827 0.160 2 12500615 intron variant G/A snv 0.52 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: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11741255
rs11741255
14 0.724 0.240 5 132475490 intron variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs1133076
rs1133076
TG
2 0.925 0.080 8 133113438 missense variant G/A snv 0.48 0.56 0.010 1.000 1 2010 2010
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2807264
rs2807264
14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs12863738
rs12863738
14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs7831697
rs7831697
14 0.724 0.240 8 137124061 regulatory region variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2008 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs755374
rs755374
14 0.724 0.240 5 159402286 intron variant C/T snv 0.28 0.700 1.000 1 2015 2015