Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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
0.810 GeneticVariation UNIPROT Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009
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
0.810 GeneticVariation BEFREE 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 Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. 16460646

2006
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT 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: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 15531480

2004
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT 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 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
0.810 GeneticVariation UNIPROT 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
0.810 GeneticVariation UNIPROT Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. 12788906

2003
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
0.810 GeneticVariation UNIPROT Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333

2002
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT 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: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792

2001
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 11317356

2001
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 10878664

2000
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116

2000
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT A novel mutation in the pendrin gene associated with Pendred's syndrome. 10718825

2000
dbSNP: rs111033256
rs111033256
SLC26A4
0.810 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166

1998