COCH, cochlin, 1690

N. diseases: 45; N. variants: 14
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: rs201294938
rs201294938
1.000 0.120 14 30884617 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017