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: rs201650281
rs201650281
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89
0.700 0
dbSNP: rs397514745
rs397514745
1.000 16 75636503 missense variant A/G snv 2.8E-05
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89
0.800 1.000 2 2013 2017
dbSNP: rs397514746
rs397514746
1.000 16 75631726 missense variant C/T snv 1.4E-05
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89
0.800 1.000 2 2013 2017