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: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.030 0.667 3 1998 2015
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2015 2018
dbSNP: rs5742909
rs5742909 		0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 0.667 3 2013 2017
dbSNP: rs733618
rs733618 		0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.030 0.667 3 2017 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.860 0.800 10 2007 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.850 0.818 11 2008 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.060 0.833 6 1998 2017
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.070 0.857 7 2008 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.100 0.875 16 1998 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.100 0.875 16 1999 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.100 0.900 10 2002 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.090 1.000 9 2001 2019
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.060 1.000 6 2010 2018
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.050 1.000 5 2011 2017
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2009 2018
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.050 1.000 5 2010 2017
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		Immune System Diseases; Endocrine System Diseases 0.030 1.000 3 2002 2009
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
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 0.030 1.000 3 2005 2014
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.030 1.000 3 2014 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.030 1.000 3 2010 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.030 1.000 3 2011 2019
dbSNP: rs231775
rs231775 		0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.030 1.000 3 2012 2019
dbSNP: rs231779
rs231779 		0.827 0.160 2 203869764 intron variant C/T snv 0.41
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.030 1.000 3 2009 2014
dbSNP: rs3087243
rs3087243 		0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.810 1.000 3 2010 2019