Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780905851
rs780905851
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs781215442
rs781215442
T 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017

dbSNP: rs786202087
rs786202087
G 0.700 GeneticVariation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs786202800
rs786202800
A 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017

dbSNP: rs876659735
rs876659735
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs876660927
rs876660927
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs1057517025
rs1057517025
T 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016

dbSNP: rs1057519330
rs1057519330
ATM
A 0.700 GeneticVariation CLINVAR Ataxia telangiectasia: a review. 27884168

2016

dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Ataxia telangiectasia associated with nodular regenerative hyperplasia. 27671921

2016

dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016

dbSNP: rs121434219
rs121434219
T 0.700 CausalMutation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246

2016

dbSNP: rs121434220
rs121434220
T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016

dbSNP: rs121434220
rs121434220
T 0.700 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394

2016

dbSNP: rs139770721
rs139770721
A 0.700 CausalMutation CLINVAR Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. 27159176

2016

dbSNP: rs1555090075
rs1555090075
ATM
T 0.700 GeneticVariation CLINVAR Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders. 27871447

2016

dbSNP: rs1555122030
rs1555122030
A 0.700 GeneticVariation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246

2016

dbSNP: rs1555151928
rs1555151928
T 0.700 CausalMutation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246

2016

dbSNP: rs267606668
rs267606668
GC 0.700 GeneticVariation CLINVAR RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. 26635394

2016

dbSNP: rs371638537
rs371638537
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs371638537
rs371638537
T 0.700 CausalMutation CLINVAR Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. 28007021

2016

dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran. 27980538

2016

dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016

dbSNP: rs377349459
rs377349459
A 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016

dbSNP: rs377349459
rs377349459
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs532480170
rs532480170
T 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016