Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908072
rs121908072
TMC1
0.810 GeneticVariation UNIPROT Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. 25388789

2014
dbSNP: rs121908072
rs121908072
TMC1
A 0.810 GeneticVariation CLINVAR Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. 19180119

2009
dbSNP: rs121908072
rs121908072
TMC1
A 0.810 GeneticVariation CLINVAR The slower progression of hearing loss associated with p.D572H, in comparison with that caused by p.D572N, may reflect a correlation of DFNA36 phenotype with TMC1 genotype. 17250663

2007
dbSNP: rs121908072
rs121908072
TMC1
0.810 GeneticVariation BEFREE The slower progression of hearing loss associated with p.D572H, in comparison with that caused by p.D572N, may reflect a correlation of DFNA36 phenotype with TMC1 genotype. 17250663

2007
dbSNP: rs121908072
rs121908072
TMC1
A 0.810 GeneticVariation CLINVAR Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 11850618

2002
dbSNP: rs121908072
rs121908072
TMC1
0.810 GeneticVariation UNIPROT Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 11850618

2002
dbSNP: rs121908072
rs121908072
TMC1
C 0.810 CausalMutation CLINVAR

dbSNP: rs121908072
rs121908072
TMC1
A 0.810 CausalMutation CLINVAR

dbSNP: rs775428246
rs775428246
TMC1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs786201027
rs786201027
TMC1
A 0.700 CausalMutation CLINVAR