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: rs786202998
rs786202998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0853879
Disease:
Invasive carcinoma of breast
0.010 GeneticVariation BEFREE RNASEL:p.Glu265* was identified in one of the PALB2 carriers who had two primary invasive breast cancer diagnoses before 50 years. 29422015 2018