Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357150
rs80357150
BRCA1
T 0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967

2019
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 CausalMutation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593

2011
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 CausalMutation CLINVAR Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility. 16403807

2006
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. 12698193

2003
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 CausalMutation CLINVAR Structure of a BRCA1-BARD1 heterodimeric RING-RING complex. 11573085

2001
dbSNP: rs80357150
rs80357150
BRCA1
A 0.700 GeneticVariation CLINVAR