rs7252185
This is a regulatory region variant variant in the ELL gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
erythrocyte count
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 4.0e-12
N 408,112
Large GWAS
European
About ELL
Enables phosphatase binding activity. Involved in positive regulation of DNA-templated transcription and snRNA transcription. Located in cytosol; euchromatin; and nuclear body. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2025]
View all ELL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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