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: rs1380822792
rs1380822792
7 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0