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: rs62625308
rs62625308
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 18 1994 2016