rs56219066
This variant is located in the ELL2 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.
multiple myeloma, monoclonal gammopathy
Swaminathan B et al. “Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.” Nature Communications 6:7213 (2015)
Allele T
OR 1.24
p 2.0e-10
N 296,835
Large GWAS
European
multiple myeloma
Swaminathan B et al. “Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.” Nature Communications 6:7213 (2015)
Allele T
OR 1.25
p 1.0e-9
N 224,749
Large GWAS
European
Duran-Lozano L et al. “Germline variants at SOHLH2 influence multiple myeloma risk.” Blood Cancer Journal 11(4):76 (2021)
Allele T
OR 1.15
p 4.0e-8
N 350,263
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…