Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. 28637432

2017
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype. 24660075

2014
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. 24010542

2014
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR Genetic epidemiology of BRCA1 mutations in Norway. 11720839

2001
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. 11504767

2001
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. 9333265

1997
dbSNP: rs80357424
rs80357424
BRCA1
A 0.700 CausalMutation CLINVAR The correlation between molecular weight and antitumor activity of galactosaminoglycan (CO-N) from Cordyceps ophioglossoides. 2630099

1989