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: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs5754467
rs5754467 		0.851 0.160 22 21630805 upstream gene variant A/G;T snv
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2016 2019
dbSNP: rs1811069
rs1811069 		1.000 0.040 22 21627765 upstream gene variant T/A;G snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1811069
rs1811069 		1.000 0.040 22 21627765 upstream gene variant T/A;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1811069
rs1811069 		1.000 0.040 22 21627765 upstream gene variant T/A;G snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1811069
rs1811069 		1.000 0.040 22 21627765 upstream gene variant T/A;G snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3747093
rs3747093 		0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs3747093
rs3747093 		0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs5754467
rs5754467 		0.851 0.160 22 21630805 upstream gene variant A/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs5754467
rs5754467 		0.851 0.160 22 21630805 upstream gene variant A/G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs5754467
rs5754467 		0.851 0.160 22 21630805 upstream gene variant A/G;T snv
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs878825
rs878825 		22 21627960 upstream gene variant T/C snv 0.32
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs878825
rs878825 		22 21627960 upstream gene variant T/C snv 0.32
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs878825
rs878825 		22 21627960 upstream gene variant T/C snv 0.32
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.020 1.000 2 2010 2012
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2298428
rs2298428 		0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3747093
rs3747093 		0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3747093
rs3747093 		0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3747093
rs3747093 		0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017