Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation. 20189727

2010
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791

2006
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 12181777

2002
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Germline BRCA1-2 mutations in non-Ashkenazi families with double primary breast and ovarian cancer. 11606101

2001
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. 11597388

2001
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation. 8595420

1995