ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800054
rs1800054
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2008 2008