rs1423269
This is a regulatory region variant variant in the ELL2 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.
multiple myeloma
Mitchell JS et al. “Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.” Nature Communications 7:12050 (2016)
Allele A
OR 1.17
p 2.0e-11
N 241,704
Large GWAS
European
About ELL2
Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jul 2025]
View all ELL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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