COCH, cochlin, 1690

N. diseases: 45; N. variants: 14
Disease: Deafness, Autosomal Dominant 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908928
rs121908928
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121908927
rs121908927
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908929
rs121908929
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121908932
rs121908932
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908932
rs121908932
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908934
rs121908934
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		C 0.800 CausalMutation CLINVAR
dbSNP: rs28938175
rs28938175
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		T 0.710 CausalMutation CLINVAR
dbSNP: rs756541797
rs756541797
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs878853226
rs878853226
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908928
rs121908928
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908927
rs121908927
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908929
rs121908929
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908932
rs121908932
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908934
rs121908934
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908931
rs121908931
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.700 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908932
rs121908932
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		T 0.800 GeneticVariation CLINVAR A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. 16261627 2005
dbSNP: rs121908928
rs121908928
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
dbSNP: rs121908927
rs121908927
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
dbSNP: rs121908929
rs121908929
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
dbSNP: rs121908932
rs121908932
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
dbSNP: rs121908934
rs121908934
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.800 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
dbSNP: rs121908931
rs121908931
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.700 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999