WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143885622
rs143885622
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.010 GeneticVariation BEFREE In total, three patients revealed low expression of WASP associated with a <i>WAS</i> gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. 29358862 2017
dbSNP: rs143885622
rs143885622
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.010 GeneticVariation BEFREE In total, three patients revealed low expression of WASP associated with a <i>WAS</i> gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. 29358862 2017
dbSNP: rs2737799
rs2737799
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.010 GeneticVariation BEFREE We report on six female members of the same family carrying the mutated WAS allele p.V332A, which is known to be associated with XLT. 23689198 2013
dbSNP: rs2737799
rs2737799
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.010 GeneticVariation BEFREE We report on six female members of the same family carrying the mutated WAS allele p.V332A, which is known to be associated with XLT. 23689198 2013
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation BEFREE A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia. 20354175 2010
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0026985
Disease:
Myelodysplasia 		0.010 GeneticVariation BEFREE A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia. 20354175 2010
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0023530
Disease:
Leukopenia 		0.010 GeneticVariation BEFREE A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 19006568 2009
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.010 GeneticVariation BEFREE A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 19006568 2009
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0027947
Disease:
Neutropenia 		0.010 GeneticVariation BEFREE A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 19006568 2009
dbSNP: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1853118
Disease:
Severe congenital neutropenia 		0.010 GeneticVariation BEFREE A mutation (Leu270Pro) in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) resulting in an X-linked SCN kindred has been reported. 16804117 2006
dbSNP: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0340970
Disease:
Congenital neutropenia 		0.010 GeneticVariation BEFREE A mutation (Leu270Pro) in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) resulting in an X-linked SCN kindred has been reported. 16804117 2006
dbSNP: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.010 GeneticVariation BEFREE Here we describe a new disease, X-linked severe congenital neutropenia (XLN), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD). 11242115 2001
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0040034
Disease:
Thrombocytopenia 		T 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 28623282 2017
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 28623282 2017
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 28623282 2017
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Defective thymic output in WAS patients is associated with abnormal actin organization. 28931895 2017
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Defective thymic output in WAS patients is associated with abnormal actin organization. 28931895 2017
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
dbSNP: rs1557006474
rs1557006474
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 GeneticVariation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. 25931402 2015
dbSNP: rs1557007123
rs1557007123
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
dbSNP: rs1557007123
rs1557007123
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		T 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
dbSNP: rs1557007123
rs1557007123
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		T 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015