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: rs878853254
rs878853254
1 1.000 0.080 22 18121455 frameshift variant GTTGCTTCCCTCTC/- delins 0.700 0