OTOGL, otogelin like, 283310

N. diseases: 9; N. variants: 8
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B ×
Source: ALL
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: rs1233562246
rs1233562246 		0.925 0.120 12 80255055 frameshift variant T/- del
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs1477766714
rs1477766714 		1.000 12 80339241 stop gained C/G;T snv
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs397514588
rs397514588 		0.925 0.120 12 80229341 stop gained C/T snv 3.8E-05 2.8E-05
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs902734999
rs902734999 		1.000 12 80342167 splice region variant G/A snv 5.8E-06 7.0E-06
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs952235302
rs952235302 		1.000 12 80358670 splice acceptor variant G/A;C snv
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0