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: rs1467199
rs1467199 		1.000 0.120 2 191015776 intron variant C/G;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1467199
rs1467199 		1.000 0.120 2 191015776 intron variant C/G;T snv
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3771300
rs3771300 		1.000 0.080 2 190970870 intron variant T/G snv 0.47
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3771300
rs3771300 		1.000 0.080 2 190970870 intron variant T/G snv 0.47
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs41382444
rs41382444 		1.000 0.080 2 191015488 intron variant C/T snv 4.8E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs45539732
rs45539732 		0.807 0.120 2 191009521 intron variant T/C snv 1.9E-02
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs45539732
rs45539732 		0.807 0.120 2 191009521 intron variant T/C snv 1.9E-02
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs45539732
rs45539732 		0.807 0.120 2 191009521 intron variant T/C snv 1.9E-02
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs45539732
rs45539732 		0.807 0.120 2 191009521 intron variant T/C snv 1.9E-02
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs45539732
rs45539732 		0.807 0.120 2 191009521 intron variant T/C snv 1.9E-02
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs45539732
rs45539732 		0.807 0.120 2 191009521 intron variant T/C snv 1.9E-02
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7565237
rs7565237 		2 190971964 intron variant C/T snv 0.22
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7597768
rs7597768 		2 190977153 intron variant A/G snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs867637
rs867637 		1.000 0.080 2 190961656 intron variant A/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 12 2011 2017
dbSNP: rs387906759
rs387906759 		0.851 0.080 2 190995205 missense variant G/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 10 2011 2016
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 10 2011 2017
dbSNP: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 9 2011 2017
dbSNP: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 1.000 9 2011 2017
dbSNP: rs387906759
rs387906759 		0.851 0.080 2 190995205 missense variant G/A snv
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		Infections; Skin and Connective Tissue Diseases 0.700 1.000 9 2011 2017
dbSNP: rs387906759
rs387906759 		0.851 0.080 2 190995205 missense variant G/A snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 1.000 7 2011 2016
dbSNP: rs387906759
rs387906759 		0.851 0.080 2 190995205 missense variant G/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 7 2011 2016
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 6 2012 2017
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 1.000 6 2012 2017
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015