Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Angelman syndrome: review of clinical and molecular aspects. | 24876791 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Angelman syndrome: review of clinical and molecular aspects. | 24876791 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The neurobehavioral and molecular phenotype of Angelman Syndrome. | 26219744 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. | 25884337 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. | 25884337 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The neurobehavioral and molecular phenotype of Angelman Syndrome. | 26219744 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. | 25884337 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | The neurobehavioral and molecular phenotype of Angelman Syndrome. | 26219744 | 2015 |