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: rs13010343
rs13010343 		1.000 0.040 2 190978719 non coding transcript exon variant G/A snv 0.10
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs137852677
rs137852677 		0.925 0.080 2 190975830 missense variant A/G 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: rs137852679
rs137852679 		0.925 0.080 2 190983699 missense variant C/A;T snv 4.0E-06
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: rs1425474734
rs1425474734 		1.000 0.080 2 190978874 missense variant G/A snv
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: 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: rs2280235
rs2280235 		1.000 0.080 2 190979104 splice region variant A/G snv 0.23
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
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: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C0019372
Disease: Herpesviridae Infections
Herpesviridae Infections 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		Infections; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2019 2019
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: rs387906762
rs387906762 		0.925 0.080 2 190998246 missense variant T/C snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016
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: rs587777704
rs587777704 		0.925 2 190976881 missense variant T/C snv
CUI: C4755296
Disease: Susceptibility to viral and mycobacterial infection
Susceptibility to viral and mycobacterial infection 		0.010 1.000 1 2012 2012
dbSNP: rs587777705
rs587777705 		0.925 2 190976990 missense variant T/C snv
CUI: C4755296
Disease: Susceptibility to viral and mycobacterial infection
Susceptibility to viral and mycobacterial infection 		0.010 1.000 1 2012 2012
dbSNP: rs796065052
rs796065052 		0.925 0.080 2 190986924 missense variant C/T snv
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
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: 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