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: rs2382817
rs2382817 		0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.810 1.000 3 2012 2017
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.730 1.000 4 2016 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2018 2019
dbSNP: rs2271543
rs2271543 		2 218277768 intron variant C/T snv 0.35
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2292553
rs2292553 		2 218282080 missense variant G/A snv 0.55 0.43
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2292553
rs2292553 		2 218282080 missense variant G/A snv 0.55 0.43
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2382817
rs2382817 		0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2382817
rs2382817 		0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2382818
rs2382818 		2 218291184 intron variant A/T snv 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4674280
rs4674280 		2 218276735 intron variant C/G snv 0.50
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs4674280
rs4674280 		2 218276735 intron variant C/G snv 0.50
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs4791
rs4791 		2 218274217 3 prime UTR variant C/T snv 0.44
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs992157
rs992157 		0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019