Gene: SLC26A4 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033199
rs111033199
SLC26A4
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: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. 19017801

2008
dbSNP: rs111033199
rs111033199
SLC26A4
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
SLC26A4
T 0.810 CausalMutation CLINVAR A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 18285825

2008
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. 9070918

1997
dbSNP: rs111033199
rs111033199
SLC26A4
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: rs111033199
rs111033199
SLC26A4
C 0.810 GeneticVariation CLINVAR Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. 19645628

2009
dbSNP: rs111033199
rs111033199
SLC26A4
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: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436

2004
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. 16460646

2006
dbSNP: rs111033256
rs111033256
SLC26A4
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
SLC26A4
A 0.810 GeneticVariation CLINVAR Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. 12974744

2003
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003
dbSNP: rs111033256
rs111033256
SLC26A4
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
SLC26A4
A 0.810 GeneticVariation CLINVAR As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis. 19287372

2009
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR SLC26A4 mutations in patients with moderate to severe hearing loss. 23504402

2013
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. 22116360

2011
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 CausalMutation CLINVAR

dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Two frequent missense mutations in Pendred syndrome. 9618166

1998
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. 19578036

2009
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 19040761

2008
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 11317356

2001
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Molecular and functional characterization of human pendrin and its allelic variants. 22116358

2011
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. 19620588

2009
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004