WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: THROMBOCYTOPENIA 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs1057517845
rs1057517845
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs132630269
rs132630269
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs132630270
rs132630270
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1557006354
rs1557006354
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557007123
rs1557007123
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. 7579347 1995
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648 1995
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.800 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648 1995
dbSNP: rs132630275
rs132630275
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.700 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648 1995
dbSNP: rs132630276
rs132630276
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.700 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648 1995
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. 8528198 1995
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. 8528198 1995
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199 1995
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.800 GeneticVariation UNIPROT Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS. 8528199 1995
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS. 8528199 1995
dbSNP: rs132630275
rs132630275
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.700 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199 1995
dbSNP: rs132630276
rs132630276
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.700 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199 1995
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. 8595430 1995
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. 8682510 1996
dbSNP: rs1569494025
rs1569494025
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome. 8931701 1996
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 9326235 1997
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 9326235 1997
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. 10202051 1999
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.800 GeneticVariation UNIPROT Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999