| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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|
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 |
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|
A | 0.810 | GeneticVariation | CLINVAR | SLC26A4 mutations in patients with moderate to severe hearing loss. | 23504402 | 2013 |
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|
A | 0.810 | GeneticVariation | CLINVAR | Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. | 22116360 | 2011 |
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|
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 |
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|
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 |
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|
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 |
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|
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 |
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|
A | 0.810 | CausalMutation | CLINVAR |