Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR ATM is usually rearranged in T-cell prolymphocytic leukaemia. 9488043

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998

dbSNP: rs587782292
rs587782292
T 0.810 CausalMutation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. 9334731

1997

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358

1997

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Predominance of null mutations in ataxia-telangiectasia. 8845835

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. 8789452

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. 8589678

1995

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600

1995

dbSNP: rs121434216
rs121434216
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs397514577
rs397514577
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587779872
rs587779872
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587781302
rs587781302
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587781511
rs587781511
ATM
G 0.800 GeneticVariation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587781511
rs587781511
ATM
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587782202
rs587782202
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs786202826
rs786202826
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. 27989354

2017

dbSNP: rs876659365
rs876659365
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016