Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. | 10807696 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. | 10807696 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. | 10807696 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. | 10807696 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. | 10807696 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |
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|
A | 0.800 | CausalMutation | CLINVAR | Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. | 9856479 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
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 | Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. | 26252218 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Bioinformatic Analysis of GJB2 Gene Missense Mutations. | 25388846 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Bioinformatic Analysis of GJB2 Gene Missense Mutations. | 25388846 | 2015 |