rs147411501

This variant is located in the RUVBL1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

facial morphology trait

Xiong Z et al. “Combining genome-wide association studies highlight novel loci involved in human facial variation.” Nature Communications 13(1):7832 (2022)

Allele A

OR —

p 1.0e-31

N 10,115

Large GWAS

multi-ancestry

About RUVBL1

This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all RUVBL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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