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: rs121918149
rs121918149
3 0.882 0.080 2 127421438 missense variant G/A snv 5.2E-05 7.7E-05 0.700 1.000 1 2019 2019