ITGB2, integrin subunit beta 2, 3689

N. diseases: 340; N. variants: 31
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: rs137852616
rs137852616 		0.925 0.080 21 44900367 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 14 1990 2010
dbSNP: rs137852609
rs137852609 		0.925 0.080 21 44889376 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 12 1990 2010
dbSNP: rs137852615
rs137852615 		0.925 0.080 21 44903482 missense variant C/A;T snv 8.0E-06
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 11 1990 2010
dbSNP: rs137852618
rs137852618 		0.925 0.080 21 44900400 missense variant C/T snv 1.6E-05 6.3E-05
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 11 1990 2010
dbSNP: rs179363873
rs179363873 		1.000 0.080 21 44901518 missense variant C/T snv
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 0
dbSNP: rs179363874
rs179363874 		1.000 0.080 21 44899161 missense variant T/A snv
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.710 1.000 1 2010 2010
dbSNP: rs137852610
rs137852610 		0.925 0.080 21 44901646 missense variant T/C;G snv 4.0E-06
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 11 1990 2010
dbSNP: rs137852611
rs137852611 		0.925 0.080 21 44903418 missense variant A/G snv
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 11 1990 2010
dbSNP: rs137852612
rs137852612 		0.925 0.080 21 44901728 missense variant C/T snv
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 11 1990 2010
dbSNP: rs137852613
rs137852613 		0.925 0.080 21 44895002 missense variant T/C snv
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 11 1990 2010
dbSNP: rs137852614
rs137852614 		0.925 0.080 21 44901700 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 11 1990 2010
dbSNP: rs137852617
rs137852617 		0.925 0.080 21 44903452 missense variant A/G snv
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 11 1990 2010
dbSNP: rs201752283
rs201752283 		0.925 0.080 21 44900319 splice donor variant C/A;T snv 2.0E-05
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 4 1992 2016
dbSNP: rs137852609
rs137852609 		0.925 0.080 21 44889376 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852610
rs137852610 		0.925 0.080 21 44901646 missense variant T/C;G snv 4.0E-06
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852611
rs137852611 		0.925 0.080 21 44903418 missense variant A/G snv
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852612
rs137852612 		0.925 0.080 21 44901728 missense variant C/T snv
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852613
rs137852613 		0.925 0.080 21 44895002 missense variant T/C snv
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852614
rs137852614 		0.925 0.080 21 44901700 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852615
rs137852615 		0.925 0.080 21 44903482 missense variant C/A;T snv 8.0E-06
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852616
rs137852616 		0.925 0.080 21 44900367 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852617
rs137852617 		0.925 0.080 21 44903452 missense variant A/G snv
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs137852618
rs137852618 		0.925 0.080 21 44900400 missense variant C/T snv 1.6E-05 6.3E-05
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.700 0
dbSNP: rs1568879914
rs1568879914 		1.000 0.080 21 44888813 frameshift variant -/GA ins
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs179363872
rs179363872 		1.000 0.080 21 44886836 missense variant C/G snv
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0