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: 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: 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: 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: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
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
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		0.700 0
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
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
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