BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359198
rs80359198
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.710 GeneticVariation BEFREE One alteration found in the breast cancers was a 2-basepair (bp) deletion (4710delAG) which was subsequently shown to be a germline mutation, the other was a somatic missense mutation (Asp3095Glu) of unknown significance. 8640235 1996
dbSNP: rs80359198
rs80359198
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.710 GeneticVariation UNIPROT