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: 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: 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
dbSNP: rs2238126
rs2238126
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		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: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016
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: rs786205154
rs786205154
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
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