SMAD7, SMAD family member 7, 4092

N. diseases: 269; N. variants: 21
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: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.900 0.964 28 2007 2019
dbSNP: rs12953717
rs12953717 		0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.900 1.000 14 2007 2018
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.820 1.000 6 2014 2019
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.800 1.000 8 2007 2019
dbSNP: rs4464148
rs4464148 		0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.780 1.000 9 2007 2018
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.750 1.000 12 2007 2019
dbSNP: rs11874392
rs11874392 		0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.730 1.000 5 2013 2019
dbSNP: rs7226855
rs7226855 		0.790 0.080 18 48927678 intron variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 3 2012 2019
dbSNP: rs12953717
rs12953717 		0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2010 2017
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2007 2019
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 8 2007 2019
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2007 2019
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2007 2019
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 8 2007 2019
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2007 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 5 2014 2019
dbSNP: rs7229639
rs7229639 		0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 5 2014 2019
dbSNP: rs2337106
rs2337106 		18 48934533 intron variant C/A;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 3 2018 2019
dbSNP: rs11874392
rs11874392 		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