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: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 1.000 12 2001 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.100 0.900 10 2007 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.760 1.000 8 2012 2019
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.070 0.714 7 2001 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.070 0.714 7 2001 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.070 0.857 7 2003 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.050 0.600 5 2007 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.040 0.750 4 2007 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2013 2018
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 1.000 4 2014 2018
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2014 2017
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2014 2017
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2013 2018
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2013 2018
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2017
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.720 0.667 3 2015 2019
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.030 1.000 3 2012 2017
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2015 2019
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.030 1.000 3 2012 2017
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 3 2010 2012
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.030 0.333 3 2012 2013
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2013 2017
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2015 2018