Gene: WAS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs782290433
rs782290433
WAS
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
WAS
0.800 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
WAS
0.800 GeneticVariation UNIPROT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312

2002
dbSNP: rs782290433
rs782290433
WAS
0.800 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648

1995
dbSNP: rs782290433
rs782290433
WAS
0.800 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 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
dbSNP: rs132630276
rs132630276
WAS
0.700 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199

1995
dbSNP: rs132630276
rs132630276
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: rs132630276
rs132630276
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 X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648

1995
dbSNP: rs143885622
rs143885622
WAS
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
WAS
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: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 21185603

2011
dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. 11793485

2002