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: rs764555290
rs764555290
3 0.882 0.080 12 52492759 missense variant G/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019