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: rs587779349
rs587779349
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014