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 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 Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312

2002
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 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 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 UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199

1995
dbSNP: rs132630273
rs132630273
WAS
T 0.810 CausalMutation CLINVAR

dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR Defective thymic output in WAS patients is associated with abnormal actin organization. 28931895

2017
dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells. 26261240

2015
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 Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A, Val75Met). 27264129

2011
dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. 20173115

2010
dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875

2009
dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR Clinical course of patients with WASP gene mutations. 12969986

2004
dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 15284122

2004
dbSNP: rs782290433
rs782290433
WAS
A 0.800 CausalMutation CLINVAR Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. 11793485

2002
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 Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 11167787

2001
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
A 0.800 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 9326235

1997
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
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: rs782290433
rs782290433
WAS
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: rs782290433
rs782290433
WAS
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: 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