Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.730 1.000 5 2013 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2016 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 14 2007 2018
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 1.000 6 2008 2014
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2011 2013
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2011 2013
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 2 2010 2017
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2017 2017
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2017 2017
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 1 2017 2017
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2017 2017
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2017 2017
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 < 0.001 1 2008 2008