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: rs1559011859
rs1559011859 		0.882 2 190986913 missense variant T/G snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 0
dbSNP: rs1559011859
rs1559011859 		0.882 2 190986913 missense variant T/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 0
dbSNP: rs1559011859
rs1559011859 		0.882 2 190986913 missense variant T/G snv
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 0
dbSNP: rs1559019204
rs1559019204 		1.000 2 190998244 missense variant C/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections 		0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0005741
Disease: Blepharitis
Blepharitis 		Eye Diseases 0.700 0
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0040261
Disease: Onychomycosis
Onychomycosis 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs41473544
rs41473544 		1.000 2 190995209 splice acceptor variant C/T snv 2.4E-03 2.5E-03
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		0.700 0
dbSNP: rs587776713
rs587776713 		1.000 2 190978968 frameshift variant TC/- delins
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 0
dbSNP: rs587776714
rs587776714 		1.000 2 190976971 frameshift variant -/T delins
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.700 0
dbSNP: rs587776870
rs587776870 		1.000 2 190998247 missense variant C/A snv
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		0.800 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0023885
Disease: Liver Abscess
Liver Abscess 		Digestive System Diseases; Infections 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0