| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. | 23235333 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. | 23235333 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. | 22246673 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss. | 22246673 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. | 11163249 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. | 11163249 | 2001 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. | 27838790 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. | 26969326 | 2016 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |