Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779851
rs587779851
CCT 0.700 CausalMutation CLINVAR Development of a high risk pancreatic screening clinic using 3.0 T MRI. 29101607

2018

dbSNP: rs587779852
rs587779852
T 0.700 CausalMutation CLINVAR Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. 29368341

2018

dbSNP: rs587779852
rs587779852
T 0.700 CausalMutation CLINVAR Pathogenic Germline Variants in 10,389 Adult Cancers. 29625052

2018

dbSNP: rs587779852
rs587779852
T 0.700 CausalMutation CLINVAR Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population. 29678143

2018

dbSNP: rs371638537
rs371638537
T 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

dbSNP: rs377349459
rs377349459
A 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

dbSNP: rs587779852
rs587779852
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: rs587779872
rs587779872
T 0.700 CausalMutation CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393

2017

dbSNP: rs587782847
rs587782847
A 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017

dbSNP: rs730881294
rs730881294
T 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs730881295
rs730881295
G 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

dbSNP: rs730881386
rs730881386
C 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs770641163
rs770641163
T 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs770641163
rs770641163
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: rs774925473
rs774925473
G 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

dbSNP: rs786202318
rs786202318
T 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

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: rs786202800
rs786202800
A 0.700 CausalMutation CLINVAR Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. 28767289

2017

dbSNP: rs786203008
rs786203008
A 0.700 CausalMutation CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237

2017

dbSNP: rs786204726
rs786204726
T 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs1131691254
rs1131691254
AT 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: rs121434219
rs121434219
T 0.700 CausalMutation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246

2016

dbSNP: rs121434219
rs121434219
T 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

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: 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