rs75512885
This variant is located in the EBF1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lymphocyte count
Orrù V et al. “Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.” Nature Genetics 52(10):1036-1045 (2020)
Allele A
OR 0.26
p 9.0e-9
N 3,656
Large GWAS
European
placenta mass, parental genotype effect measurement
Beaumont RN et al. “Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth.” Nature Genetics 55(11):1807-1819 (2023)
Allele T
OR 0.08
p 5.0e-8
N 52,392
Large GWAS
European
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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