Gene: WAS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 23033889

2013
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 22523910

2012
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 21185603

2011
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR [WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 20959042

2010
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875

2009
dbSNP: rs132630268
rs132630268
WAS
C 0.710 GeneticVariation CLINVAR Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. 17390083

2007
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). 17213309

2007
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene. 18162713

2007
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins. 16638962

2006
dbSNP: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR Clinical course of patients with WASP gene mutations. 12969986

2004
dbSNP: rs132630268
rs132630268
WAS
A 0.710 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
C 0.710 GeneticVariation CLINVAR WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. 14612666

2003
dbSNP: rs132630268
rs132630268
WAS
C 0.710 GeneticVariation CLINVAR Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. 12437929

2002
dbSNP: rs132630268
rs132630268
WAS
C 0.710 GeneticVariation 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 0.710 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 0.710 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 9326235

1997
dbSNP: rs132630268
rs132630268
WAS
C 0.710 GeneticVariation 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: rs132630268
rs132630268
WAS
0.710 GeneticVariation BEFREE Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. 8743175

1996
dbSNP: rs132630268
rs132630268
WAS
A 0.710 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: rs132630268
rs132630268
WAS
A 0.710 CausalMutation CLINVAR Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. 8069912

1994
dbSNP: rs132630268
rs132630268
WAS
T 0.710 CausalMutation CLINVAR

dbSNP: rs1557006239
rs1557006239
WAS
A 0.700 CausalMutation CLINVAR A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 28623282

2017
dbSNP: rs782290433
rs782290433
WAS
A 0.700 CausalMutation CLINVAR Defective thymic output in WAS patients is associated with abnormal actin organization. 28931895

2017
dbSNP: rs1557006239
rs1557006239
WAS
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
WAS
A 0.700 GeneticVariation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. 25931402

2015