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: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 1 2019 2019
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs562047
rs562047 		0.882 0.080 6 31816086 missense variant G/C snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1008438
rs1008438 		0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 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 2011 2011
dbSNP: rs1043618
rs1043618 		0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1061581
rs1061581 		0.827 0.200 6 31816809 synonymous variant G/A snv
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs562047
rs562047 		0.882 0.080 6 31816086 missense variant G/C snv 0.16
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs562047
rs562047 		0.882 0.080 6 31816086 missense variant G/C snv 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018