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: rs753107507
rs753107507
SAG
1 1.000 0.080 2 233327125 missense variant G/T snv 1.2E-05 0.010 1.000 1 2018 2018