| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | [Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]. | 29188609 | 2017 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
G | 0.800 | GeneticVariation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
G | 0.800 | GeneticVariation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutation Update for UBE3A variants in Angelman syndrome. | 25212744 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. | 26255772 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |