Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358721
rs80358721
BRCA2
A 0.700 CausalMutation CLINVAR Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing. 25136594

2014
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80358721
rs80358721
BRCA2
A 0.700 CausalMutation CLINVAR EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. 21120943

2011
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80358721
rs80358721
BRCA2
A 0.700 CausalMutation CLINVAR Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. 19654294

2009
dbSNP: rs80358721
rs80358721
BRCA2
G 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236

2007
dbSNP: rs80358721
rs80358721
BRCA2
R 0.700 CausalMutation CLINVAR