SCN1A, sodium voltage-gated channel alpha subunit 1, 6323
N. diseases: 287; N. variants: 533
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | SCN1A mutations and epilepsy. | 15880351 | 2005 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Severe myoclonic epilepsy in infancy: Dravet syndrome. | 15508915 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Severe myoclonic epilepsy in infancy: Dravet syndrome. | 15508915 | 2005 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. | 16430863 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. | 16430863 | 2006 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. | 18930999 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. | 18930999 | 2009 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Structure and function of voltage-gated sodium channels at atomic resolution. | 24097157 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Structure and function of voltage-gated sodium channels at atomic resolution. | 24097157 | 2014 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | The spectrum of SCN1A-related infantile epileptic encephalopathies. | 17347258 | 2007 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | The spectrum of SCN1A-related infantile epileptic encephalopathies. | 17347258 | 2007 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Timing of de novo mutagenesis--a twin study of sodium-channel mutations. | 20879882 | 2010 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Timing of de novo mutagenesis--a twin study of sodium-channel mutations. | 20879882 | 2010 |