COCH, cochlin, 1690

N. diseases: 45; N. variants: 14
Disease: Profound sensorineural hearing loss ×
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: rs121908932
rs121908932 		0.925 0.120 14 30889763 missense variant G/A;T snv
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018