Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1565501066
rs1565501066
1.000 11 118262954 synonymous variant G/A snv
CUI: C4748374
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 111
DEAFNESS, AUTOSOMAL RECESSIVE 111
0.700 0
dbSNP: rs752672077
rs752672077
0.925 0.120 11 118263084 frameshift variant T/- del 8.1E-04 6.8E-04
CUI: C4748374
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 111
DEAFNESS, AUTOSOMAL RECESSIVE 111
0.700 0