| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. | 31370103 | 2019 | |||||||
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0.800 | GeneticVariation | UNIPROT | The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. | 31370103 | 2019 | |||||||
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0.800 | GeneticVariation | UNIPROT | The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. | 31370103 | 2019 | |||||||
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0.800 | GeneticVariation | UNIPROT | The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. | 31370103 | 2019 | |||||||
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0.800 | GeneticVariation | UNIPROT | The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. | 31370103 | 2019 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. | 16751771 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. | 16751771 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. | 16751771 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. | 16751771 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. | 16751771 | 2006 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. | 22700964 | 2012 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR |