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: rs121908930
rs121908930
0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs28938175
rs28938175
0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005