rs11031436
This is a intron variant variant in the ELP4 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.
optic disc area
Springelkamp H et al. “Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.” Genetic Epidemiology 39(3):207-16 (2015)
Allele T
OR 0.03
p 6.0e-10
N 24,089
Meta-analysisLarge GWAS
multi-ancestry
About ELP4
This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
View all ELP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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