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: rs9953366
rs9953366
1 1.000 0.080 18 48947822 intron variant T/A;C snv 0.72 0.700 1.000 2 2018 2018