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: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.800 0.923 13 1999 2020
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.710 1.000 1 2017 2017
dbSNP: rs121913527
rs121913527
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.700 0
dbSNP: rs770248150
rs770248150
7 0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.100 1.000 10 2004 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.040 0.750 4 2015 2019
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.030 1.000 3 2014 2017
dbSNP: rs712
rs712
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.030 1.000 3 2014 2019
dbSNP: rs1137188
rs1137188
2 1.000 0.080 12 25206418 3 prime UTR variant G/A snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs397517040
rs397517040
2 0.925 0.120 12 25245346 synonymous variant G/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7960917
rs7960917
1 1.000 0.080 12 25208712 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2020 2020
dbSNP: rs8720
rs8720
1 1.000 0.080 12 25206009 3 prime UTR variant T/C snv 0.49 0.010 1.000 1 2020 2020