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: rs348330
rs348330
1 1.000 0.080 1 229537208 intron variant G/A snv 0.47 0.700 1.000 2 2018 2019