OTOGL, otogelin like, 283310

N. diseases: 9; N. variants: 8
Disease: Sensorineural Hearing Loss (disorder) ×
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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs397514588
rs397514588 		0.925 0.120 12 80229341 stop gained C/T snv 3.8E-05 2.8E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012