TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: hearing impairment ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564555185
rs1564555185
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C1384666
Disease:
hearing impairment 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs1564583413
rs1564583413
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs757327146
rs757327146
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C1384666
Disease:
hearing impairment 		G 0.700 CausalMutation CLINVAR
dbSNP: rs775428246
rs775428246
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908072
rs121908072
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE Two different missense mutations, p.D572N and p.D572H, affecting the same nucleotide and codon of the TMC1 gene were earlier reported to cause autosomal dominant hearing impairment at locus DFNA36 in two North American families. 19180119 2009