Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781927
rs587781927
ATM
C 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs587781927
rs587781927
ATM
C 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013
dbSNP: rs587781927
rs587781927
ATM
C 0.700 CausalMutation CLINVAR Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. 21445571

2011
dbSNP: rs587781927
rs587781927
ATM
C 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs587781927
rs587781927
ATM
C 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs587781927
rs587781927
ATM
A 0.700 GeneticVariation CLINVAR ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998
dbSNP: rs587781927
rs587781927
ATM
A 0.700 GeneticVariation CLINVAR Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. 9600235

1998
dbSNP: rs587781927
rs587781927
ATM
C 0.700 CausalMutation CLINVAR Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252

1998
dbSNP: rs587781927
rs587781927
ATM
C 0.700 CausalMutation CLINVAR ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 2491181

1989