Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881687
rs730881687
CHEK2
T 0.700 CausalMutation CLINVAR Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report. 31349801

2019
dbSNP: rs1131690832
rs1131690832
FLCN
T 0.700 CausalMutation CLINVAR Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. 29720200

2018
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
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: rs75030001
rs75030001
RET
T 0.700 CausalMutation CLINVAR Genotype-specific progression of hereditary medullary thyroid cancer. 29656518

2018
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Pathogenic Germline Variants in 10,389 Adult Cancers. 29625052

2018
dbSNP: rs142763740
rs142763740
CHEK2
A 0.700 GeneticVariation CLINVAR A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. 29520813

2018
dbSNP: rs587781558
rs587781558
ATM
A 0.700 CausalMutation CLINVAR Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic. 29486991

2018
dbSNP: rs786201042
rs786201042
MSH6
T 0.700 CausalMutation CLINVAR Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. 29485237

2018
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation. 29472279

2018
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs397507375
rs397507375
BRCA2
C 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80357472
rs80357472
BRCA1
A 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80357762
rs80357762
BRCA1
CA 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80359391
rs80359391
BRCA2
C 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80359772
rs80359772
BRCA2
G 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide. 29439820

2018
dbSNP: rs80357808
rs80357808
BRCA1
T 0.700 CausalMutation CLINVAR Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population. 29435039

2018
dbSNP: rs137854550
rs137854550
NF1
G 0.700 CausalMutation CLINVAR Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study. 29415745

2018
dbSNP: rs80359066
rs80359066
BRCA2
C 0.700 GeneticVariation CLINVAR Genomic Heterogeneity Within Individual Prostate Cancer Foci Impacts Predictive Biomarkers of Targeted Therapy. 29398457

2019
dbSNP: rs28897746
rs28897746
BRCA2
C 0.700 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
dbSNP: rs41293513
rs41293513
BRCA2
T 0.700 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
dbSNP: rs80358979
rs80358979
BRCA2
C 0.700 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018