| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.700 | GeneticVariation | CLINVAR | Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. | 26746617 | 2016 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. | 26011646 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. | 25157971 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. | 21078986 | 2010 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. | 11687802 | 2001 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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AG | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |