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: rs1057519786
rs1057519786
5 0.882 0.160 X 47566722 missense variant C/G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs1057519876
rs1057519876
3 0.882 0.160 X 47566721 missense variant T/G snv 0.700 1.000 1 2016 2016