Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. 23110154

2012
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR Social and cultural factors underlying generational differences in overweight: a cross-sectional study among ethnic minorities in the Netherlands. 21324156

2011
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900

2011
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR The spectrum and incidence of BRCA1 pathogenic mutations in Slovak breast/ovarian cancer families. 17319787

2007
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. 16760289

2006
dbSNP: rs80357919
rs80357919
BRCA1
A 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: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer. 10882857

2000
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR Germline BRCA1 alterations in a population-based series of ovarian cancer cases. 10196379

1999
dbSNP: rs80357919
rs80357919
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. 9663595

1998