Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357019
rs80357019
BRCA1
G 0.700 GeneticVariation CLINVAR Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity. 25748678

2015
dbSNP: rs80357019
rs80357019
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: rs80357019
rs80357019
BRCA1
G 0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs80357019
rs80357019
BRCA1
G 0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007
dbSNP: rs80357019
rs80357019
BRCA1
G 0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs80357019
rs80357019
BRCA1
G 0.700 GeneticVariation CLINVAR Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation. 12496477

2003
dbSNP: rs80357019
rs80357019
BRCA1
G 0.700 GeneticVariation CLINVAR Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. 11595708

2001