ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801516
rs1801516
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE IVS 36-8 T>C and D1853N were observed in blood and tumor tissue, whilst splicing variants were only occurred in tumor tissue. 29293464 2018