Gene: SLC26A4 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033307
rs111033307
SLC26A4
G 0.820 CausalMutation CLINVAR Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009
dbSNP: rs111033307
rs111033307
SLC26A4
G 0.820 CausalMutation CLINVAR Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients. 23273637

2013
dbSNP: rs111033307
rs111033307
SLC26A4
G 0.820 CausalMutation CLINVAR Two frequent missense mutations in Pendred syndrome. 9618166

1998
dbSNP: rs111033307
rs111033307
SLC26A4
G 0.820 CausalMutation CLINVAR Two missense mutations in SLC26A4 gene: a molecular and functional study. 20128824

2010
dbSNP: rs111033307
rs111033307
SLC26A4
G 0.820 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074

2006
dbSNP: rs121908362
rs121908362
SLC26A4
G 0.820 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014
dbSNP: rs121908362
rs121908362
SLC26A4
G 0.820 CausalMutation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007
dbSNP: rs121908362
rs121908362
SLC26A4
G 0.820 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs121908362
rs121908362
SLC26A4
G 0.820 CausalMutation CLINVAR Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene. 20826203

2010
dbSNP: rs121908362
rs121908362
SLC26A4
G 0.820 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 11932316

2002
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. 25999548

2015
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 15689455

2005
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1998
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792

2001
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome. 12788906

2003
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 17503324

2007
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074

2006
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Life-threatening metabolic alkalosis in Pendred syndrome. 21551164

2011
dbSNP: rs111033199
rs111033199
SLC26A4
C 0.810 GeneticVariation CLINVAR Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations. 27090054

2017
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Two frequent missense mutations in Pendred syndrome. 9618166

1998
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 20597900

2010
dbSNP: rs111033199
rs111033199
SLC26A4
C 0.810 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017