rs724159945
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
THROMBOCYTOPENIA 5
T
0.800
CausalMutation
CLINVAR
rs724159945
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
THROMBOCYTOPENIA 5
0.800
GeneticVariation
UNIPROT
rs724159946
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
THROMBOCYTOPENIA 5
A
0.800
CausalMutation
CLINVAR
rs724159946
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
THROMBOCYTOPENIA 5
0.800
GeneticVariation
UNIPROT
rs724159947
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
THROMBOCYTOPENIA 5
0.800
GeneticVariation
UNIPROT
rs724159947
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
THROMBOCYTOPENIA 5
T
0.800
CausalMutation
CLINVAR
rs2238126
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
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
rs2238126
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
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
rs724159947
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
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
rs724159947
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Thrombocytopenia
T
0.710
GeneticVariation
CLINVAR
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
25581430
2015
rs786205155
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
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
rs786205155
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
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
rs786205155
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Thrombocytopenia
C
0.710
CausalMutation
CLINVAR
rs786205155
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Acute lymphocytic leukemia
C
0.710
CausalMutation
CLINVAR
rs145477191
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Finding of Mean Corpuscular Hemoglobin
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs2541138
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Red Blood Cell Count measurement
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs2724616
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Body Height
0.700
GeneticVariation
GWASCAT
Characterizing rare and low-frequency height-associated variants in the Japanese population.
31562340
2019
rs2900208
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs2900208
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Lean body mass
0.700
GeneticVariation
GWASCAT
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
30593698
2019
rs146216907
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Body Height
CTCCCTCCT
0.700
GeneticVariation
GWASCAT
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
28552196
2017
rs2238126
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Malignant tumor of colon
G
0.700
GeneticVariation
GWASCAT
Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.
27145994
2016
rs2238126
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
G
0.700
GeneticVariation
GWASCAT
Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.
27145994
2016
rs2238126
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Adenocarcinoma of large intestine
G
0.700
GeneticVariation
GWASCAT
Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.
27145994
2016
rs2238126
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
Colorectal Neoplasms
G
0.700
GeneticVariation
GWASCAT
Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.
27145994
2016
rs2238126
×
Entrez Id:
2120
Gene Symbol:
ETV6
ETV6
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
G
0.700
GeneticVariation
GWASCAT
Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.
27145994
2016