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: rs397518485
rs397518485
2 0.925 0.080 6 111559523 missense variant G/A snv 0.800 1.000 1 2013 2013