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: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.040 1.000 4 2015 2019
dbSNP: rs1057519725
rs1057519725
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913538
rs121913538
3 0.882 0.080 12 25245328 missense variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs712
rs712
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2017 2017