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: rs80357243
rs80357243
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective. 26344711 2015
dbSNP: rs80357243
rs80357243
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115 2010