ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Colorectal Carcinoma ×
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: rs1800056
rs1800056 		0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1800057
rs1800057 		0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs189037
rs189037 		0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs758081262
rs758081262 		0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs768362387
rs768362387 		0.851 0.360 11 108253846 stop gained C/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015