Source: ALL

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
T 0.810 GeneticVariation 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
0.810 GeneticVariation UNIPROT

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

dbSNP: rs80359014
rs80359014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT

dbSNP: rs80358979
rs80358979
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
C 0.800 CausalMutation CLINVAR

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

2003

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

2013

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

2013

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs45580035
rs45580035
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
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
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
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
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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. 16793542

2006

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. 15026808

2004

dbSNP: rs45580035
rs45580035
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
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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926

2004

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

dbSNP: rs45580035
rs45580035
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
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