ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: melanoma ×
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: rs1801516
rs1801516 		0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.810 1.000 3 2011 2017
dbSNP: rs587779826
rs587779826 		0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 0
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