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: rs149968577
rs149968577
6 32181364 stop gained G/A;C snv 1.0E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs169504
rs169504
6 32185629 3 prime UTR variant C/A snv 0.20
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
0.700 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
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: 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
dbSNP: rs2070600
rs2070600
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.030 1.000 3 2015 2018
dbSNP: rs2070600
rs2070600
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.030 1.000 3 2011 2019
dbSNP: rs2070600
rs2070600
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.710 1.000 3 2007 2011
dbSNP: rs2070600
rs2070600
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2005 2019
dbSNP: rs2070600
rs2070600
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
Respiratory Tract Diseases 0.020 0.500 2 2017 2017