Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200928781
rs200928781
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: rs200928781
rs200928781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002

dbSNP: rs28897696
rs28897696
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: rs28897696
rs28897696
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: rs28897696
rs28897696
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: rs28897696
rs28897696
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: rs28897696
rs28897696
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: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation BEFREE Two mutated forms of BRCA1, a missense (A1708E) and a nonsense (Y1853X) that have been identified in familial breast cancers, associated with Nmi and c-Myc but failed to suppress c-Myc-induced hTERT promoter activity. 11916966

2002

dbSNP: rs28897696
rs28897696
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.810 CausalMutation CLINVAR

dbSNP: rs28897759
rs28897759
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation BEFREE We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.9371A > T) present in seven independent high-risk breast cancer families that were counseled and genetically tested in South-West Germany. 24728577

2014

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

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

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 BEFREE Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). 22889855

2012

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
0.800 GeneticVariation BEFREE Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the FGF10 and MRPS30 promoter regions in breast cancer cell lines. 27640304

2016

dbSNP: rs10941679
rs10941679
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation BEFREE In this study using a Han Chinese population, rs10941679 was the only SNP associated with breast cancer risk, indicating a difference between European and Chinese populations in susceptibility loci. 24528085

2014

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: rs10941679
rs10941679
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation BEFREE Overall, significantly elevated BC risk was associated with rs10941679, rs4415084, and rs981782 risk allele when all studies were pooled into the meta-analysis. 23977236

2013

dbSNP: rs10941679
rs10941679
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation BEFREE We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer. 23893088

2013

dbSNP: rs10941679
rs10941679
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation BEFREE The mitochondrial ribosomal protein S30 gene (MRPS30) rs10941679 was associated with breast cancer risk only among women with more than 30 years of menstruation (odds ratio = 1.15, 95% confidence interval: 1.05, 1.26). 23221726

2013