TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: Nonsyndromic Deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908073
rs121908073
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. 20373850 2010