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 0.100 1.000 10 2009 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.050 1.000 5 2012 2020
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.050 0.600 5 2011 2017
dbSNP: rs712
rs712
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.040 1.000 4 2015 2019
dbSNP: rs104894365
rs104894365
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs953088090
rs953088090
2 12 25227262 missense variant T/C snv 0.010 1.000 1 2019 2019