rs17056278

This variant is located in the EBF1 gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

immunoglobulin lambda-like polypeptide 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.26
p 6.0e-27
N 10,708
Large GWAS
European

low affinity immunoglobulin epsilon Fc receptor measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.20
p 1.0e-15
N 10,708
Large GWAS
European

C-reactive protein measurement

Said S et al. “Genetic analysis of over half a million people characterises C-reactive protein loci.” Nature Communications 13(1):2198 (2022)
Allele C
OR 0.02
p 4.0e-9
N 575,531
Large GWAS
European

psychosocial stress measurement, hip circumference

Singh A et al. “Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.” European Journal of Human Genetics : Ejhg 23(6):854-62 (2015)
Allele C
OR —
p 3.0e-8
N 5,805
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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The genetics of antipsychotic induced tremors: A genome‐wide pathway analysis on the STEP‐BD SCP sample
AssociationN=409Antonio Drago et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genome-wide pathway analysis of 409 bipolar patients treated with antipsychotics identified molecular pathways significantly associated with antipsychotic-induced tremors/extrapyramidal symptoms (EPS). While no single SNPs reached GWAS significance (p=4.2×10⁻⁷), pathway analysis revealed significant associations with pathways related to oxidative stress, cell survival (hsa04930, hsa04115), cell movement (hsa04512, hsa04510), and lipid metabolism (hsa00561, hsa03320) at p=0.0009-0.0019. The top individual SNPs showed beta coefficients ranging from -0.25 to 1.11, suggesting complex genetic architecture underlying antipsychotic-induced motor side effects.

Traits studied:Antipsychotic-induced akathisiaAntipsychotic-induced extrapyramidal symptomsAntipsychotic-induced parkinsonismAntipsychotic-induced tardive dyskinesiaAntipsychotic-induced tremors
PubMedDOIMetascience Observatory

About EBF1

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of DNA-templated transcription. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

View all EBF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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