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: 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: rs886043118
rs886043118 		0.925 0.040 2 191009916 frameshift variant T/- delins
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2018
dbSNP: rs886043118
rs886043118 		0.925 0.040 2 191009916 frameshift variant T/- delins
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2018
dbSNP: rs886043118
rs886043118 		0.925 0.040 2 191009916 frameshift variant T/- delins
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 2 2016 2018
dbSNP: rs886043118
rs886043118 		0.925 0.040 2 191009916 frameshift variant T/- delins
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2018
dbSNP: rs886043118
rs886043118 		0.925 0.040 2 191009916 frameshift variant T/- delins
CUI: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.700 1.000 2 2016 2018
dbSNP: rs1085307649
rs1085307649 		0.882 2 190995129 missense variant G/T snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 1 2016 2016
dbSNP: rs1085307649
rs1085307649 		0.882 2 190995129 missense variant G/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 1.000 1 2016 2016
dbSNP: rs1085307649
rs1085307649 		0.882 2 190995129 missense variant G/T snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 1.000 1 2016 2016
dbSNP: rs1553496850
rs1553496850 		0.882 2 190995139 missense variant T/C snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 1.000 1 2016 2016
dbSNP: rs1553496850
rs1553496850 		0.882 2 190995139 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 1.000 1 2016 2016
dbSNP: rs1553496850
rs1553496850 		0.882 2 190995139 missense variant T/C snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 1.000 1 2016 2016
dbSNP: rs2280235
rs2280235 		1.000 0.080 2 190979104 splice region variant A/G snv 0.23
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
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