Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908362
rs121908362
G 0.820 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014

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

2010

dbSNP: rs121908362
rs121908362
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: rs111033307
rs111033307
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: rs121908362
rs121908362
G 0.820 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008

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

2008

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

2007

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

2006

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

1998

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

2017

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

2017

dbSNP: rs111033348
rs111033348
T 0.810 GeneticVariation CLINVAR Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. 26752218

2016

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

2015

dbSNP: rs111033199
rs111033199
T 0.810 CausalMutation CLINVAR Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis. 26683941

2015

dbSNP: rs111033348
rs111033348
T 0.810 GeneticVariation CLINVAR DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. 25991456

2015

dbSNP: rs111033199
rs111033199
T 0.810 CausalMutation CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479

2014

dbSNP: rs111033257
rs111033257
A 0.810 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119

2014

dbSNP: rs121908363
rs121908363
T 0.810 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014

dbSNP: rs111033199
rs111033199
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
T 0.810 CausalMutation CLINVAR Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 23965030

2013

dbSNP: rs111033199
rs111033199
T 0.810 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: rs111033256
rs111033256
A 0.810 GeneticVariation CLINVAR Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 23965030

2013

dbSNP: rs111033256
rs111033256
A 0.810 GeneticVariation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013

dbSNP: rs111033256
rs111033256
A 0.810 GeneticVariation CLINVAR SLC26A4 mutations in patients with moderate to severe hearing loss. 23504402

2013