ITGB2, integrin subunit beta 2, 3689

N. diseases: 340; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352818
rs483352818
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs483352819
rs483352819
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs5030672
rs5030672
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs137852609
rs137852609
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852609
rs137852609
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852615
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852615
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852618
rs137852618
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852618
rs137852618
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852610
rs137852610
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852610
rs137852610
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852611
rs137852611
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852611
rs137852611
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852612
rs137852612
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852612
rs137852612
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852613
rs137852613
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852613
rs137852613
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852614
rs137852614
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852614
rs137852614
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852617
rs137852617
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852617
rs137852617
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.700 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852609
rs137852609
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Identification of two molecular defects in a child with leukocyte adherence deficiency. 1347532 1992
dbSNP: rs137852609
rs137852609
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Molecular basis for a severe case of leukocyte adhesion deficiency. 1352501 1992