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: rs1057519951
rs1057519951
4 0.882 0.080 3 49375472 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519954
rs1057519954
3 0.882 0.160 3 49375465 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016