| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. | 26444186 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Bioinformatic Analysis of GJB2 Gene Missense Mutations. | 25388846 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Unique spectrum of GJB2 mutations in Mexico. | 22925408 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. | 19235794 | 2009 |
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|
A | 0.700 | GeneticVariation | CLINVAR | GJB2 mutations in Baluchi population. | 18776652 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. | 17666888 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. | 17041943 | 2006 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. | 16222667 | 2005 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. | 12865758 | 2004 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Clinical presentation of DFNB1. | 12408072 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR |