CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
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: rs540635787
rs540635787
0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs17879961
rs17879961
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.090 0.889 9 2006 2013
dbSNP: rs2236142
rs2236142
0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018