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: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs2302524
rs2302524 		1.000 0.040 19 43652320 missense variant T/C snv 0.16 0.17
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs36229204
rs36229204 		19 43671830 upstream gene variant C/T snv 3.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4251884
rs4251884 		19 43655632 intron variant G/A snv 3.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4251884
rs4251884 		19 43655632 intron variant G/A snv 3.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1426829028
rs1426829028 		0.882 0.080 19 43670078 missense variant T/C snv 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1426829028
rs1426829028 		0.882 0.080 19 43670078 missense variant T/C snv 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1426829028
rs1426829028 		0.882 0.080 19 43670078 missense variant T/C snv 7.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2283628
rs2283628 		1.000 0.040 19 43658909 intron variant T/C snv 0.24
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs2302524
rs2302524 		1.000 0.040 19 43652320 missense variant T/C snv 0.16 0.17
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs344781
rs344781 		0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs344781
rs344781 		0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs344781
rs344781 		0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs344781
rs344781 		0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs344781
rs344781 		0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs344781
rs344781 		0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs344781
rs344781 		0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs4760
rs4760 		1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs772718099
rs772718099 		1.000 0.080 19 43656560 missense variant G/A;C snv 1.2E-05; 2.8E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007