| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. | 23238346 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. | 23238346 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Novel mutation in GLRB in a large family with hereditary hyperekplexia. | 21391991 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Novel mutation in GLRB in a large family with hereditary hyperekplexia. | 21391991 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). | 11929858 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). | 11929858 | 2002 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | GLRB is the third major gene of effect in hyperekplexia. | 23184146 | 2013 |
|||
|
GA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |