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: rs587776582
rs587776582
1 1.000 0.120 5 150398373 frameshift variant AAGAA/- delins 0.700 1.000 5 1997 2012