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: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2012 2017
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2012 2017
dbSNP: rs3758581
rs3758581 		0.925 0.040 10 94842866 missense variant A/G snv 0.95
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs3758581
rs3758581 		0.925 0.040 10 94842866 missense variant A/G snv 0.95
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3758581
rs3758581 		0.925 0.040 10 94842866 missense variant A/G snv 0.95
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2009 2018
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2009 2018
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2018 2019
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C3203672
Disease: CYP2C19 polymorphism
CYP2C19 polymorphism 		0.020 1.000 2 2008 2019
dbSNP: rs4986893
rs4986893 		0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2018 2019
dbSNP: rs1187513719
rs1187513719 		0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1187513719
rs1187513719 		0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs199562446
rs199562446 		10 94827994 intron variant C/T snv 9.3E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4986893
rs4986893 		0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03
CUI: C3203672
Disease: CYP2C19 polymorphism
CYP2C19 polymorphism 		0.010 1.000 1 2019 2019