Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. 15365993

2004
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. 15172753

2004
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 germline mutations in familial pancreatic carcinoma. 12569143

2003
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 gene mutations in families with aggregations of breast and stomach cancers. 12373604

2002
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. 11948477

2002
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. 12442274

2002
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 T2722R is a deleterious allele that causes exon skipping. 12145750

2002
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD). 11241844

2001
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425

2001
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 germline mutations in male breast cancer patients in the Polish population. 11139248

2001
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. 10978364

2000
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Germline brca2 sequence variants in patients with ocular melanoma. 10399947

1999
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. 9971877

1999
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. 9654203

1998
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. 9609997

1998
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT A low proportion of BRCA2 mutations in Finnish breast cancer families. 9150152

1997
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.800 CausalMutation CLINVAR

dbSNP: rs4942486
rs4942486
BRCA2
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs4942486
rs4942486
BRCA2
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899

2017
dbSNP: rs4942486
rs4942486
BRCA2
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs4942486
rs4942486
BRCA2
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs80358979
rs80358979
BRCA2
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 14559878

2003
dbSNP: rs80358979
rs80358979
BRCA2
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs80359014
rs80359014
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.800 CausalMutation CLINVAR