rs1801516
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
melanoma
0.810
GeneticVariation
GWASCAT
Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
28212542
2017
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
0.810
GeneticVariation
UNIPROT
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
27664052
2017
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
CausalMutation
CLINVAR
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.
26094658
2015
rs1801516
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
melanoma
0.810
GeneticVariation
BEFREE
Finally, rs1801516 , located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study.
23537197
2013
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
22529920
2012
rs1801516
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
melanoma
0.810
GeneticVariation
GWASDB
Genome-wide association study identifies three new melanoma susceptibility loci.
21983787
2011
rs1801516
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
melanoma
0.810
GeneticVariation
GWASCAT
Genome-wide association study identifies three new melanoma susceptibility loci.
21983787
2011
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
21459046
2011
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
19431188
2009
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
0.810
GeneticVariation
UNIPROT
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
19431188
2009
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
18573109
2008
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
CausalMutation
CLINVAR
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
18573109
2008
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
15101044
2004
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
CausalMutation
CLINVAR
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
15101044
2004
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.
12552566
2003
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
CausalMutation
CLINVAR
The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.
12552566
2003
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
0.810
GeneticVariation
BEFREE
The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.
12552566
2003
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
0.810
GeneticVariation
UNIPROT
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
10817650
2000
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Mantle cell lymphoma is characterized by inactivation of the ATM gene.
10706620
2000
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
10817650
2000
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
CausalMutation
CLINVAR
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
10817650
2000
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
0.810
GeneticVariation
UNIPROT
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
9887333
1999
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
0.810
GeneticVariation
UNIPROT
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
10234507
1999
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
T
0.810
GeneticVariation
CLINVAR
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
9872980
1998
rs587782292
ATM;C11orf65
Ataxia Telangiectasia
0.810
GeneticVariation
UNIPROT
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