Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4988349
rs4988349
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Of 25 variants identified in BRIP1, in addition to four common silent or missense mutations, we identified Gln540Leu, a non-conservative amino acid change, in a single familial proband with inflammatory breast cancer, but this mutation was not present in her three relatives with breast cancer. 12872252 2003