Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906915
rs387906915
TMPRSS3
0.800 GeneticVariation UNIPROT Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649

2002
dbSNP: rs387906915
rs387906915
TMPRSS3
0.800 GeneticVariation UNIPROT The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. 12393794

2002
dbSNP: rs727503493
rs727503493
TMPRSS3
T 0.700 CausalMutation CLINVAR Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 11907649

2002
dbSNP: rs137852999
rs137852999
TMPRSS3
0.800 GeneticVariation UNIPROT Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 15447792

2004
dbSNP: rs137853000
rs137853000
TMPRSS3
0.800 GeneticVariation UNIPROT Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 15447792

2004
dbSNP: rs28939084
rs28939084
TMPRSS3
0.800 GeneticVariation UNIPROT Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 15447792

2004
dbSNP: rs387906915
rs387906915
TMPRSS3
0.800 GeneticVariation UNIPROT Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 15447792

2004
dbSNP: rs727503493
rs727503493
TMPRSS3
T 0.700 CausalMutation CLINVAR Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 15447792

2004
dbSNP: rs137852999
rs137852999
TMPRSS3
0.800 GeneticVariation UNIPROT A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 16021470

2005
dbSNP: rs137853000
rs137853000
TMPRSS3
0.800 GeneticVariation UNIPROT A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 16021470

2005
dbSNP: rs28939084
rs28939084
TMPRSS3
0.800 GeneticVariation UNIPROT A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 16021470

2005
dbSNP: rs387906915
rs387906915
TMPRSS3
0.800 GeneticVariation UNIPROT A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 16021470

2005
dbSNP: rs147231991
rs147231991
TMPRSS3
T 0.700 CausalMutation CLINVAR Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 16283880

2005
dbSNP: rs181949335
rs181949335
TMPRSS3
T 0.700 CausalMutation CLINVAR Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. 17551081

2007
dbSNP: rs727503493
rs727503493
TMPRSS3
T 0.700 CausalMutation CLINVAR Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity. 19170735

2009
dbSNP: rs147231991
rs147231991
TMPRSS3
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 21786053

2011
dbSNP: rs181949335
rs181949335
TMPRSS3
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 21786053

2011
dbSNP: rs727503493
rs727503493
TMPRSS3
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 21786053

2011
dbSNP: rs147231991
rs147231991
TMPRSS3
T 0.700 CausalMutation CLINVAR Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. 22975204

2012
dbSNP: rs727503493
rs727503493
TMPRSS3
T 0.700 CausalMutation CLINVAR Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 21534946

2012
dbSNP: rs181949335
rs181949335
TMPRSS3
T 0.700 CausalMutation CLINVAR Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. 23958653

2013
dbSNP: rs181949335
rs181949335
TMPRSS3
T 0.700 CausalMutation CLINVAR A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. 24526180

2014
dbSNP: rs727503493
rs727503493
TMPRSS3
T 0.700 CausalMutation CLINVAR TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 26036852

2016
dbSNP: rs181949335
rs181949335
TMPRSS3
T 0.700 CausalMutation CLINVAR Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. 28246597

2017