CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Malignant neoplasm of colon and/or rectum ×
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: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.070 1.000 7 2006 2013
dbSNP: rs2236142
rs2236142 		0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs5762748
rs5762748 		0.925 0.080 22 28694902 intron variant G/A snv 6.3E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs9620817
rs9620817 		0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018