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: rs2071481
rs2071481 		1.000 0.120 6 32852088 intron variant T/C snv 0.14 0.11
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs2071536
rs2071536 		1.000 0.040 6 32853670 synonymous variant C/T snv 9.9E-02 8.3E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2071538
rs2071538 		0.925 0.160 6 32850901 intron variant G/A snv 0.18 0.17
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2071538
rs2071538 		0.925 0.160 6 32850901 intron variant G/A snv 0.18 0.17
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs2071540
rs2071540 		0.925 0.200 6 32845139 non coding transcript exon variant T/C snv 0.61
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs2071540
rs2071540 		0.925 0.200 6 32845139 non coding transcript exon variant T/C snv 0.61
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: rs4148882
rs4148882 		1.000 0.080 6 32849181 non coding transcript exon variant G/A snv 0.71
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs991760
rs991760 		1.000 0.120 6 32855790 intron variant G/A snv 8.2E-02
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: rs1135216
rs1135216 		0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.020 0.500 2 2014 2017
dbSNP: rs1135216
rs1135216 		0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.020 0.500 2 2014 2017
dbSNP: rs1057141
rs1057141 		1.000 0.080 6 32850997 missense variant T/C snv 0.20 0.20
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1135216
rs1135216 		0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18
CUI: C0858681
Disease: Vitiligo vulgaris
Vitiligo vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1135216
rs1135216 		0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1135216
rs1135216 		0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1135216
rs1135216 		0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1351383
rs1351383 		1.000 0.040 6 32854492 intron variant A/C snv 0.43
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs735883
rs735883 		1.000 0.080 6 32848277 intron variant G/A snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs760870035
rs760870035 		0.925 0.040 6 32854240 missense variant C/G;T snv 1.4E-05; 1.4E-05
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs760870035
rs760870035 		0.925 0.040 6 32854240 missense variant C/G;T snv 1.4E-05; 1.4E-05
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018