Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report. 21559243

2011
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families. 14757871

2004
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. 10699917

2000
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 mutations in a population-based sample of young women with breast cancer. 8531967

1996
dbSNP: rs80357508
rs80357508
BRCA1
C 0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. 8571953

1996