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: rs1059702
rs1059702 		0.807 0.280 X 154018741 missense variant A/G snv 0.72
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.730 1.000 4 2011 2016
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.040 0.500 4 2010 2018
dbSNP: rs1059702
rs1059702 		0.807 0.280 X 154018741 missense variant A/G snv 0.72
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.030 1.000 3 2011 2017
dbSNP: rs1059702
rs1059702 		0.807 0.280 X 154018741 missense variant A/G snv 0.72
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		Respiratory Tract Diseases 0.020 1.000 2 2013 2017
dbSNP: rs1059703
rs1059703 		0.851 0.280 X 154013378 missense variant G/A snv 0.67
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2010 2017
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.020 1.000 2 2015 2019
dbSNP: rs10127175
rs10127175 		1.000 0.080 X 154018721 missense variant A/T snv 5.1E-03 1.8E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1059702
rs1059702 		0.807 0.280 X 154018741 missense variant A/G snv 0.72
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1059702
rs1059702 		0.807 0.280 X 154018741 missense variant A/G snv 0.72
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1059702
rs1059702 		0.807 0.280 X 154018741 missense variant A/G snv 0.72
CUI: C0032241
Disease: Pleuropneumonia
Pleuropneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1059702
rs1059702 		0.807 0.280 X 154018741 missense variant A/G snv 0.72
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1059703
rs1059703 		0.851 0.280 X 154013378 missense variant G/A snv 0.67
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1059703
rs1059703 		0.851 0.280 X 154013378 missense variant G/A snv 0.67
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1059703
rs1059703 		0.851 0.280 X 154013378 missense variant G/A snv 0.67
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1059703
rs1059703 		0.851 0.280 X 154013378 missense variant G/A snv 0.67
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1059703
rs1059703 		0.851 0.280 X 154013378 missense variant G/A snv 0.67
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3027898
rs3027898 		0.752 0.360 X 154010439 downstream gene variant C/A snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010