Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. | 27771369 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. | 27344577 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. | 12788906 | 2003 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. | 11919333 | 2002 |