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: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 1.000 0.877 81 2005 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 1.000 0.950 80 2004 2020
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.900 0.980 101 2005 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.900 0.972 36 2004 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.900 0.857 14 2005 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.860 0.900 10 2005 2018
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.860 0.800 10 2005 2016
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.850 0.667 6 2006 2017
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.800 1.000 3 2012 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.800 1.000 2 2011 2012
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.760 0.857 7 2006 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.740 0.800 5 2008 2016
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.740 1.000 5 2008 2015
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		Skin and Connective Tissue Diseases 0.740 1.000 5 2006 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.730 1.000 4 2011 2016
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.730 1.000 4 2008 2018
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.720 1.000 4 2006 2015
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0085655
Disease: Polymyositis
Polymyositis 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 2 2008 2016
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.710 1.000 2 2016 2017
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2018 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2016 2019
dbSNP: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs1217407
rs1217407 		1.000 0.120 1 113851126 intron variant A/G snv 0.77
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1217413
rs1217413 		1.000 0.120 1 113815128 intron variant G/A snv 0.82
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1217418
rs1217418 		0.925 0.120 1 113858609 intron variant A/G snv 0.53 0.57
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009