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: rs1567705064
rs1567705064
8 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0