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: rs146216907
rs146216907
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0005890
Disease:
Body Height 		CTCCCTCCT 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
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: 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: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0009402
Disease:
Colorectal Carcinoma 		G 0.710 GeneticVariation GWASCAT The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 × 10(-6)) and reduces the binding affinity of transcriptional enhancer MAX. 27145994 2016
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		G 0.700 GeneticVariation GWASCAT The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 × 10(-6)) and reduces the binding affinity of transcriptional enhancer MAX. 27145994 2016
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.710 GeneticVariation BEFREE The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 × 10(-6)) and reduces the binding affinity of transcriptional enhancer MAX. 27145994 2016
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation BEFREE The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 × 10(-6)) and reduces the binding affinity of transcriptional enhancer MAX. 27145994 2016
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation BEFREE One family also had a mutation encoding p.Pro214Leu and one individual with ALL. 25807284 2015
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		0.010 GeneticVariation BEFREE One family also had a mutation encoding p.Pro214Leu and one individual with ALL. 25807284 2015
dbSNP: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation BEFREE One family also had a mutation encoding p.Pro214Leu and one individual with ALL. 25807284 2015
dbSNP: rs145477191
rs145477191
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2541138
rs2541138
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2900208
rs2900208
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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: rs786205155
rs786205155
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0023449
Disease:
Acute lymphocytic leukemia 		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: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia 		0.010 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: C0751606
Disease:
Adult Acute Lymphocytic Leukemia 		0.010 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 		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: 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: 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