Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs938431501
rs938431501
ATM ; C11orf65
0.700 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs938431501
rs938431501
ATM ; C11orf65
0.700 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs914092098
rs914092098
ATM
A 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013
dbSNP: rs914092098
rs914092098
ATM
A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs914092098
rs914092098
ATM
A 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs886041931
rs886041931
ATM
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041340
rs886041340
ATM
TACAG 0.700 CausalMutation CLINVAR ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998
dbSNP: rs886041340
rs886041340
ATM
TACAG 0.700 CausalMutation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998
dbSNP: rs886039666
rs886039666
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039637
rs886039637
ATM
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886039633
rs886039633
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs886039628
rs886039628
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR

dbSNP: rs879254189
rs879254189
ATM
C 0.700 CausalMutation CLINVAR

dbSNP: rs879254171
rs879254171
ATM
A 0.700 GeneticVariation CLINVAR Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. 22006793

2012
dbSNP: rs879254093
rs879254093
ATM
A 0.700 CausalMutation CLINVAR Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. 20840352

2011
dbSNP: rs879254093
rs879254093
ATM
A 0.700 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347

2006
dbSNP: rs879254093
rs879254093
ATM
A 0.700 CausalMutation CLINVAR ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. 16941484

2006
dbSNP: rs879254076
rs879254076
ATM
A 0.700 CausalMutation CLINVAR ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. 10864201

2000
dbSNP: rs879254076
rs879254076
ATM
A 0.700 GeneticVariation CLINVAR

dbSNP: rs879254052
rs879254052
ATM
C 0.700 CausalMutation CLINVAR

dbSNP: rs879254046
rs879254046
ATM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs879254036
rs879254036
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853538
rs878853538
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR

dbSNP: rs878853535
rs878853535
ATM ; C11orf65
C 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: rs878853533
rs878853533
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR