ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Adenocarcinoma of large intestine ×
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: rs138398778
rs138398778 		1.000 0.080 11 108247071 missense variant C/A;T snv 8.0E-06; 8.8E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs202160435
rs202160435 		0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587779858
rs587779858 		1.000 0.080 11 108227692 missense variant G/A snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587782310
rs587782310 		1.000 0.080 11 108330234 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587782652
rs587782652 		0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs730881315
rs730881315 		1.000 0.080 11 108329154 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs772821016
rs772821016 		0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0