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: 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: 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: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2013 2017
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: rs1187513719
rs1187513719 		0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1187513719
rs1187513719 		0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
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: rs12248560
rs12248560 		0.925 0.080 10 94761900 intron variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12248560
rs12248560 		0.925 0.080 10 94761900 intron variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
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: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
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: 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: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4244285
rs4244285 		0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
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: rs55752064
rs55752064 		1.000 0.040 10 94762755 missense variant T/A;C snv
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		Digestive System Diseases 0.010 < 0.001 1 2015 2015