Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 CausalMutation CLINVAR Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. 28637432

2017
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 CausalMutation CLINVAR Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer. 19787003

2009
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 CausalMutation CLINVAR Breast cancer genetics in African Americans. 12491487

2003
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 CausalMutation CLINVAR Unique de novo mutation of BRCA2 in a woman with early onset breast cancer. 11836363

2002
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 GeneticVariation CLINVAR