BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201704
rs786201704
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer. 12810666 2003