Variant: rs1064793293 

    present in Gene: WAS
    present in Chromosome: X
    Position on Chromosome: 48689434
    Alleles of this Variant: G/A

rs1064793293 in WAS gene and Wiskott-Aldrich Syndrome PMID 20173115 2010 X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

PMID 11298372 2001 Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

PMID 10447259 1999 Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

PMID 16091449 2005 Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.

PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PMID 19817875 2009 Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.