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: rs1565912409
rs1565912409
2 1.000 12 121957126 frameshift variant CT/- del 0.700 1.000 1 2018 2018