Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357442
rs80357442
BRCA1
G 0.700 GeneticVariation CLINVAR A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 21447777

2011
dbSNP: rs80357442
rs80357442
BRCA1
G 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs80357442
rs80357442
BRCA1
G 0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007
dbSNP: rs80357442
rs80357442
BRCA1
G 0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs80357442
rs80357442
BRCA1
G 0.700 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004
dbSNP: rs80357442
rs80357442
BRCA1
G 0.700 GeneticVariation CLINVAR Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. 15385441

2004
dbSNP: rs80357442
rs80357442
BRCA1
G 0.700 GeneticVariation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003