ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
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: C4015537
Disease:
THROMBOCYTOPENIA 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs724159945
rs724159945
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5 		0.800 GeneticVariation UNIPROT
dbSNP: rs724159946
rs724159946
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs724159946
rs724159946
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5 		0.800 GeneticVariation UNIPROT
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5 		0.800 GeneticVariation UNIPROT
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs786205155
rs786205155
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		C 0.710 CausalMutation CLINVAR
dbSNP: rs786205155
rs786205155
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		C 0.710 CausalMutation CLINVAR
dbSNP: rs121434637
rs121434637
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555144911
rs1555144911
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776710
rs587776710
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		AGGG 0.700 CausalMutation CLINVAR
dbSNP: rs786205154
rs786205154
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786205154
rs786205154
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786205226
rs786205226
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4015537
Disease:
THROMBOCYTOPENIA 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs2856321
rs2856321
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0489786
Disease:
Height 		A 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs2856321
rs2856321
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs201820837
rs201820837
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023418
Disease:
leukemia 		0.010 GeneticVariation BEFREE The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations. 22976839 2012
dbSNP: rs201820837
rs201820837
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C1332977
Disease:
Childhood Leukemia 		0.010 GeneticVariation BEFREE The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations. 22976839 2012
dbSNP: rs2856321
rs2856321
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0005890
Disease:
Body Height 		G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
dbSNP: rs2856321
rs2856321
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0489786
Disease:
Height 		G 0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
dbSNP: rs2856321
rs2856321
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
dbSNP: rs1573613
rs1573613
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation BEFREE Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). 24886876 2014
dbSNP: rs1573613
rs1573613
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). 24886876 2014
dbSNP: rs1573613
rs1573613
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation BEFREE Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). 24886876 2014
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