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: rs1565286228
rs1565286228
6 0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 0.700 0