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
melanoma
Source Database
DisGeNET
Description
Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study.
Pubmed
23537197
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.245895776315646
Year of publication
2013
Drugs