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: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		0.710 GeneticVariation BEFREE Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. 25807284 2015
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		T 0.710 GeneticVariation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
dbSNP: rs786205155
rs786205155
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		0.710 GeneticVariation BEFREE Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. 26102509 2015
dbSNP: rs786205155
rs786205155
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		C 0.710 CausalMutation CLINVAR
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
dbSNP: rs724159946
rs724159946
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
dbSNP: rs786205154
rs786205154
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR