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: 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: 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: 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: 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: rs724159945
rs724159945
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease:
Hematologic Neoplasms 		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: C0376545
Disease:
Hematologic Neoplasms 		A 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: rs724159947
rs724159947
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
CUI: C0376545
Disease:
Hematologic Neoplasms 		T 0.700 GeneticVariation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
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 		A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
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: 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: 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: 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: 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