ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Thrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159945
rs724159945
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		T 0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015