ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Neoplasms ×
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: rs1565400045
rs1565400045 		11 108259050 frameshift variant A/- del
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 0
dbSNP: rs1565486028
rs1565486028 		11 108307917 frameshift variant -/G delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 0
dbSNP: rs1800056
rs1800056 		0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs1801516
rs1801516 		0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs750597831
rs750597831 		1.000 0.120 11 108229230 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013