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: rs1555274344
rs1555274344
1 1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 0.700 0