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: rs380286
rs380286
8 0.776 0.200 5 1320132 intron variant G/A snv 0.47 0.700 1.000 1 2018 2018