| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | GeneticVariation | CLINVAR | Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). | 17503324 | 2007 |
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|
C | 0.800 | GeneticVariation | CLINVAR | Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? | 19204907 | 2009 |
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|
C | 0.800 | GeneticVariation | CLINVAR | Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). | 20597900 | 2010 |
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|
C | 0.800 | GeneticVariation | 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 |
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|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. | 19426954 | 2009 |
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|
C | 0.800 | 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 |
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|
C | 0.800 | GeneticVariation | CLINVAR | Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. | 25394566 | 2015 |
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|
C | 0.800 | GeneticVariation | CLINVAR | The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. | 17309986 | 2007 |