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: 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
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: 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: 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: rs12773342
rs12773342 		1.000 0.040 10 94763326 intron variant T/C snv 0.16
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10509676
rs10509676 		10 94763288 intron variant A/G;T snv 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11592737
rs11592737 		0.925 0.040 10 94843657 intron variant A/G snv 0.21
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs11592737
rs11592737 		0.925 0.040 10 94843657 intron variant A/G snv 0.21
CUI: C3203672
Disease: CYP2C19 polymorphism
CYP2C19 polymorphism 		0.010 1.000 1 2015 2015
dbSNP: rs4494250
rs4494250 		10 94804000 intron variant G/A snv 0.28
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs4494250
rs4494250 		10 94804000 intron variant G/A snv 0.28
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
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: 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