Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM p.Asp1853Asn (p.D1853N) ( ENST00000452508.7, ENST00000278616.10, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Asp1853Asn (p.D1853N) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer.
Pubmed
18264724
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0469594438698925
Year of publication
2008
Drugs