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: rs1085307300
rs1085307300
1 1.000 0.080 2 202530946 frameshift variant A/- del 0.700 1.000 1 2006 2006