rs1516725
This is a intron variant variant in the ETV5 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body mass index
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele T
OR —
β 0.047
p 2.0e-31
N 309,889
Large GWAS
European
Locke AE et al. “Genetic studies of body mass index yield new insights for obesity biology.” Nature 518(7538):197-206 (2015)
Allele T
OR 0.04
p 1.0e-12
N 238,944
Large GWAS
multi-ancestry
Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)
Allele T
OR 0.04
p 1.0e-24
N 158,284
Large GWAS
multi-ancestry
Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele T
OR 0.04
p 1.0e-8
N 153,041
Meta-analysisLarge GWAS
multi-ancestry
Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)
Allele T
OR 0.07
p 2.0e-8
N 56,161
Major Consortium StudyLarge GWAS
Hispanic or Latin American
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele T
OR 1.21
p 4.0e-8
N 16,068
Meta-analysisLarge GWAS
European
HDL cholesterol change measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 3.0e-29
N 450,015
Large GWAS
multi-ancestry
high density lipoprotein cholesterol measurement
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.03
p 3.0e-29
N 1,320,016
Large GWAS
European
cholesteryl esters in HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 1.0e-28
N 450,015
Large GWAS
multi-ancestry
bipolar disorder, body mass index
Pisanu C et al. “Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.” Translational Psychiatry 9(1):315 (2019)
Allele T
OR 0.05
p 1.0e-24
N 373,864
Large GWAS
European
cholesteryl esters in medium HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 4.0e-22
N 450,015
Large GWAS
multi-ancestry
waist circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 2.0e-9
N 143,480
Large GWAS
multi-ancestry
obesity
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele C
OR 1.15
p 3.0e-9
N 204,498
Meta-analysisLarge GWAS
European
hip circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 1.0e-8
N 143,480
Large GWAS
multi-ancestry
body fat percentage
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 6.0e-16
N 394,642
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout ETV5
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all ETV5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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