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: rs1517352
rs1517352 		0.851 0.160 2 191066738 intron variant A/C snv 0.45
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3024877
rs3024877 		1.000 0.120 2 191040163 intron variant C/T snv 0.35
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3024908
rs3024908 		1.000 0.120 2 191029415 intron variant T/C snv 9.7E-02
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6752770
rs6752770 		1.000 0.080 2 191108837 intron variant A/G snv 0.31
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10168266
rs10168266 		0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2012 2012
dbSNP: rs3024921
rs3024921 		0.925 0.120 2 191078546 intron variant A/T snv 3.6E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 2 2012 2012
dbSNP: rs6715106
rs6715106 		1.000 0.080 2 191048308 intron variant A/G snv 6.1E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2011 2012
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 2009 2012
dbSNP: rs11893432
rs11893432 		0.827 0.120 2 191057148 intron variant C/G snv 0.21
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7572482
rs7572482 		1.000 0.200 2 191150346 intron variant A/C;G snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs897200
rs897200 		0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
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 0.030 0.667 3 2010 2013
dbSNP: rs7601754
rs7601754 		0.882 0.160 2 191075725 intron variant G/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.810 1.000 3 2010 2013
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2013 2013
dbSNP: rs10168266
rs10168266 		0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10168266
rs10168266 		0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10168266
rs10168266 		0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013