| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. | 27864847 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. | 27864847 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. | 27864847 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |