COLCA2, colorectal cancer associated 2, 120376

N. diseases: 12; N. variants: 3
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: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.900 1.000 24 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.720 1.000 9 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 8 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 8 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 8 2008 2019
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs6589219
rs6589219 		0.790 0.080 11 111302186 intron variant G/C snv 0.69
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2018 2018
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.030 1.000 3 2011 2013
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.030 1.000 3 2011 2013
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2008 2013
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2010 2010
dbSNP: rs10891246
rs10891246 		1.000 0.080 11 111299815 missense variant A/G snv 0.72
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3802842
rs3802842 		0.695 0.280 11 111300984 intron variant C/A snv 0.71
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015