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: rs104894809
rs104894809
GATA1
0.020 GeneticVariation BEFREE Alterations of the FOG-1 face are responsible for dyserythropoietic anemia with thrombocytopenia while R216Q, the only mutation identified in the DNA face, induces X-linked thrombocytopenia with thalassemia (XLTT). 14691578

2004
dbSNP: rs104894809
rs104894809
GATA1
0.020 GeneticVariation BEFREE We report here that a syndrome of X-linked thrombocytopenia with thalassemia in humans is caused by a missense mutation (Arg216Gln) in the GATA-1 N finger. 12200364

2002
dbSNP: rs1224362988
rs1224362988
WIPF1
0.010 GeneticVariation BEFREE We analyzed two WASP missense mutants (L46P and A47D) causing XLT for their effects on T cell chemotaxis. 25200405

2014
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