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: rs397515848
rs397515848
2 0.925 0.160 15 48427591 stop gained G/A snv 0.700 1.000 4 1999 2016