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: rs10098664
rs10098664 		8 11559984 non coding transcript exon variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs10100215
rs10100215 		1.000 0.120 8 11504763 intron variant G/T snv 0.26
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11250141
rs11250141 		1.000 0.120 8 11514632 intron variant G/A snv 0.48
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11250144
rs11250144 		0.925 0.200 8 11528767 intron variant G/A;C snv
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11250144
rs11250144 		0.925 0.200 8 11528767 intron variant G/A;C snv
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11990277
rs11990277 		1.000 0.120 8 11514576 intron variant T/C snv 0.23
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1307379746
rs1307379746 		1.000 0.080 8 11556804 missense variant C/G;T snv 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.890 1.000 13 2008 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 1.000 3 2011 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0085655
Disease: Polymyositis
Polymyositis 		Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2011
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		Infections; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2019 2019