rs80357268, BRCA1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548 2010
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548 2010
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Nursing welcome mat to the hospital, an advanced practice nurse's responsibility. 20526115 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. 18992264 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. 18992264 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets. 19452558 2009
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. 18992264 2009
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Thermal unfolding of human BRCA1 BRCT-domain variants. 17493881 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Thermal unfolding of human BRCA1 BRCT-domain variants. 17493881 2007
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Thermal unfolding of human BRCA1 BRCT-domain variants. 17493881 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation 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
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. 16284991 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay. 15004537 2004
Hereditary Breast and Ovarian Cancer Syndrome
0.700 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985 2004
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985 2004