Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AG | 0.700 | GeneticVariation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. | 23632773 | 2013 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AGC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. | 27433846 | 2016 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
|||
|
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 |
|||
|
T | 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 | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. | 19781682 | 2009 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 |