WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: THROMBOCYTOPENIA 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569493877
rs1569493877
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. 25931402 2015
dbSNP: rs1569493877
rs1569493877
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 15284122 2004