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: 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: rs4917623
rs4917623 		0.925 0.080 10 94849811 intron variant T/C snv 0.44
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: rs4917623
rs4917623 		0.925 0.080 10 94849811 intron variant T/C snv 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4986893
rs4986893 		0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03
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: rs4986893
rs4986893 		0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4986893
rs4986893 		0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2012 2012
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
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
dbSNP: rs57081121
rs57081121 		0.925 0.080 10 94780653 stop gained G/A 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: rs57081121
rs57081121 		0.925 0.080 10 94780653 stop gained G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs868063722
rs868063722 		1.000 0.080 10 94775077 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007