Gene: WAS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517845
rs1057517845
WAS
A 0.700 CausalMutation CLINVAR

dbSNP: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR [WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 20959042

2010
dbSNP: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 15284122

2004
dbSNP: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR Clinical course of patients with WASP gene mutations. 12969986

2004
dbSNP: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 23033889

2013
dbSNP: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 9326235

1997
dbSNP: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 22523910

2012
dbSNP: rs132630268
rs132630268
WAS
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: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875

2009
dbSNP: rs132630268
rs132630268
WAS
A 0.700 CausalMutation CLINVAR WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). 17213309

2007
dbSNP: rs132630269
rs132630269
WAS
T 0.700 CausalMutation CLINVAR

dbSNP: rs132630270
rs132630270
WAS
G 0.700 CausalMutation CLINVAR

dbSNP: rs132630273
rs132630273
WAS
0.810 GeneticVariation UNIPROT Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 11167787

2001
dbSNP: rs132630273
rs132630273
WAS
0.810 GeneticVariation UNIPROT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312

2002
dbSNP: rs132630273
rs132630273
WAS
0.810 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648

1995
dbSNP: rs132630273
rs132630273
WAS
0.810 GeneticVariation BEFREE Molecular analysis of the first case identified a mutation in exon 2 of the gene coding for WASP, leading to a p.Thr45Met amino acid change and confirming the diagnosis of X-linked thrombocytopenia. 28641574

2017
dbSNP: rs132630273
rs132630273
WAS
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: rs132630273
rs132630273
WAS
0.810 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199

1995
dbSNP: rs132630273
rs132630273
WAS
T 0.810 CausalMutation CLINVAR

dbSNP: rs132630275
rs132630275
WAS
0.700 GeneticVariation UNIPROT Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 11167787

2001
dbSNP: rs132630275
rs132630275
WAS
0.700 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199

1995
dbSNP: rs132630275
rs132630275
WAS
0.700 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648

1995
dbSNP: rs132630275
rs132630275
WAS
0.700 GeneticVariation UNIPROT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312

2002
dbSNP: rs132630275
rs132630275
WAS
0.700 GeneticVariation UNIPROT Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259

1999
dbSNP: rs132630276
rs132630276
WAS
0.700 GeneticVariation UNIPROT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312

2002