Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Transposable elements in disease-associated cryptic exons. 19823873

2010
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. 15174027

2004
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 11382771

2001
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314

1998
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996