Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. | 26346818 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Salicylate restores transport function and anion exchanger activity of missense pendrin mutations. | 20826203 | 2010 |
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|
A | 0.700 | 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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|
A | 0.700 | GeneticVariation | CLINVAR | Two frequent missense mutations in Pendred syndrome. | 9618166 | 1998 |