Annotation Detail

Information
Associated Genes
BABAM1
Associated Variants
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
Pubmed
20852631
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.120814325616241
Year of publication
2010
Drugs