Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897759
rs28897759
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT

dbSNP: rs28897759
rs28897759
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.810 GeneticVariation CLINVAR

dbSNP: rs55770810
rs55770810
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014

dbSNP: rs55770810
rs55770810
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014

dbSNP: rs55770810
rs55770810
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs55770810
rs55770810
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs55770810
rs55770810
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs55770810
rs55770810
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.810 CausalMutation CLINVAR

dbSNP: rs10941679
rs10941679
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs121913279
rs121913279
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168

2006

dbSNP: rs1219648
rs1219648
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation GWASDB A combined analysis of genome-wide association studies in breast cancer. 20872241

2011

dbSNP: rs1219648
rs1219648
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation GWASDB Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. 21263130

2011

dbSNP: rs1219648
rs1219648
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation GWASDB A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. 17529973

2007

dbSNP: rs13281615
rs13281615
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs13281615
rs13281615
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.800 GeneticVariation GWASDB Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967

2007

dbSNP: rs13387042
rs13387042
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.800 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs13387042
rs13387042
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.800 GeneticVariation GWASDB Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. 21263130

2011

dbSNP: rs13387042
rs13387042
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.800 GeneticVariation GWASDB Genome-wide association study identifies five new breast cancer susceptibility loci. 20453838

2010

dbSNP: rs13387042
rs13387042
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.800 GeneticVariation GWASDB A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). 19330030

2009

dbSNP: rs13387042
rs13387042
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.800 GeneticVariation GWASDB At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone. 17529974

2007

dbSNP: rs17879961
rs17879961
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358

2015

dbSNP: rs17879961
rs17879961
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation CLINVAR Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. 24880342

2014

dbSNP: rs17879961
rs17879961
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation CLINVAR In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008). 23713947

2013

dbSNP: rs17879961
rs17879961
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390

2013

dbSNP: rs17879961
rs17879961
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.800 GeneticVariation CLINVAR The risk of gastric cancer in carriers of CHEK2 mutations. 23296741

2013