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: 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: 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: 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: 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: 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: 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: rs2724616
rs2724616
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 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: rs2900208
rs2900208
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0424678
Disease:
Lean body mass
0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
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: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0007102
Disease:
Malignant tumor of colon
G 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
G 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
G 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0009404
Disease:
Colorectal Neoplasms
G 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
G 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016