Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356974
rs80356974
BRCA1
C 0.700 CausalMutation CLINVAR Achieving high-sensitivity for clinical applications using augmented exome sequencing. 26269718

2015
dbSNP: rs80356974
rs80356974
BRCA1
C 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs80356974
rs80356974
BRCA1
C 0.700 CausalMutation CLINVAR Saturation editing of genomic regions by multiplex homology-directed repair. 25141179

2014
dbSNP: rs80356974
rs80356974
BRCA1
C 0.700 CausalMutation CLINVAR High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. 19941162

2010
dbSNP: rs80356974
rs80356974
BRCA1
C 0.700 CausalMutation CLINVAR Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. 20609467

2010
dbSNP: rs80356974
rs80356974
BRCA1
C 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: rs80356974
rs80356974
BRCA1
C 0.700 CausalMutation CLINVAR Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. 12491499

2003
dbSNP: rs80356974
rs80356974
BRCA1
C 0.700 CausalMutation CLINVAR Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. 11748305

2001