BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358010
rs80358010
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C0919267
Disease:
ovarian neoplasm
T 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004