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: rs1137282
rs1137282
5 0.851 0.120 12 25209843 missense variant A/G;T snv 0.19 0.010 1.000 1 2018 2018
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 2019 2019
dbSNP: rs9513070
rs9513070
4 0.851 0.080 13 28305702 intron variant G/A snv 0.54 0.010 1.000 1 2018 2018