TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: Deafness, Autosomal Recessive 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908074
rs121908074
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C1832978
Disease:
Deafness, Autosomal Recessive 7 		0.800 GeneticVariation UNIPROT Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 11850618 2002
dbSNP: rs121908074
rs121908074
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C1832978
Disease:
Deafness, Autosomal Recessive 7 		G 0.800 CausalMutation CLINVAR