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: rs10181656
rs10181656 		0.763 0.360 2 191105153 intron variant G/C snv 0.79
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2008 2010
dbSNP: rs11889341
rs11889341 		0.732 0.480 2 191079016 intron variant C/T snv 0.21
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2014 2019
dbSNP: rs11893432
rs11893432 		0.827 0.120 2 191057148 intron variant C/G snv 0.21
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 2 2014 2018
dbSNP: rs13426947
rs13426947 		0.925 0.200 2 191068528 3 prime UTR variant G/A snv 0.20
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs1517352
rs1517352 		0.851 0.160 2 191066738 intron variant A/C snv 0.45
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 2 2012 2015
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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2018
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: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.020 1.000 2 2009 2010
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2013 2015
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		Respiratory Tract Diseases 0.020 1.000 2 2013 2017
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2013 2015
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2017
dbSNP: rs7574865
rs7574865 		0.574 0.720 2 191099907 intron variant T/G snv 0.79
CUI: C1333977
Disease: Hepatitis B Virus-Related Hepatocellular Carcinoma
Hepatitis B Virus-Related Hepatocellular Carcinoma 		0.020 1.000 2 2013 2016
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: rs7582694
rs7582694 		0.763 0.400 2 191105394 intron variant C/G snv 0.77
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2016 2019
dbSNP: rs897200
rs897200 		0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.020 1.000 2 2014 2018
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
dbSNP: rs10168266
rs10168266 		0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs10168266
rs10168266 		0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs10168266
rs10168266 		0.776 0.400 2 191071078 intron variant C/T snv 0.19
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017