Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Discovering moderate-risk breast cancer susceptibility genes. 20346647

2010
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. 17910737

2008
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. 16941484

2006
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Heterozygous ATM mutations do not contribute to early onset of breast cancer. 9054948

1997