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: rs397516435
rs397516435
6 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 1996 1996