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: rs587776634
rs587776634
1 1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del 0.700 0