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: rs34887403
rs34887403 		22 28755162 intron variant G/A snv 0.11
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs34887403
rs34887403 		22 28755162 intron variant G/A snv 0.11
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs5752792
rs5752792 		22 28757771 downstream gene variant C/T snv 0.88
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2236141
rs2236141 		0.882 0.080 22 28741882 5 prime UTR variant C/T snv 0.10
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2236141
rs2236141 		0.882 0.080 22 28741882 5 prime UTR variant C/T snv 0.10
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2236141
rs2236141 		0.882 0.080 22 28741882 5 prime UTR variant C/T snv 0.10
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2236142
rs2236142 		0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2236142
rs2236142 		0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2236142
rs2236142 		0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2236142
rs2236142 		0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2236142
rs2236142 		0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2236142
rs2236142 		0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs747453853
rs747453853 		22 28742247 missense variant G/A snv 4.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs747453853
rs747453853 		22 28742247 missense variant G/A snv 4.0E-06
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014