Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. | 22006793 | 2012 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Ataxia telangiectasia: a review. | 27884168 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. | 9711876 | 1998 |
|||
|
T | 0.700 | CausalMutation | CLINVAR |