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: rs3821236
rs3821236 		0.882 0.160 2 191038032 intron variant G/A snv 0.25
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 3 2010 2019
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: rs10174238
rs10174238 		0.724 0.200 2 191108308 intron variant G/A snv 0.70
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10174238
rs10174238 		0.724 0.200 2 191108308 intron variant G/A snv 0.70
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11889341
rs11889341 		0.732 0.480 2 191079016 intron variant C/T snv 0.21
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7568275
rs7568275 		0.827 0.120 2 191101726 intron variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
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 0.010 1.000 1 2010 2010
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7582694
rs7582694 		0.763 0.400 2 191105394 intron variant C/G snv 0.77
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 2010 2010
dbSNP: rs925847
rs925847 		0.925 0.040 2 191032814 intron variant C/T snv 0.32
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs925847
rs925847 		0.925 0.040 2 191032814 intron variant C/T snv 0.32
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2010 2010
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: rs10931481
rs10931481 		0.827 0.240 2 191090126 intron variant G/A snv 0.66
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: rs11889341
rs11889341 		0.732 0.480 2 191079016 intron variant C/T snv 0.21
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2011 2011
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