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: 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: rs2337106
rs2337106 		18 48934533 intron variant C/A;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs2337106
rs2337106 		18 48934533 intron variant C/A;G snv
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2337106
rs2337106 		18 48934533 intron variant C/A;G snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs2878889
rs2878889 		18 48936766 intron variant A/C;G;T snv
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2878889
rs2878889 		18 48936766 intron variant A/C;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs57633475
rs57633475 		18 48943280 intron variant A/G snv 0.12
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs9946510
rs9946510 		18 48931857 intron variant A/C snv 0.25
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs9946510
rs9946510 		18 48931857 intron variant A/C snv 0.25
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
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: 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: 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: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.800 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: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.070 1.000 7 2009 2017
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.050 1.000 5 2008 2016
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0242510
Disease: Drug usage
Drug usage 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4939827
rs4939827 		0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009