rs72793812

This is a downstream gene variant variant in the ATXN2L gene.

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GWAS Catalog Trait Associations (2)

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

cognitive function measurement

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)

Allele A

OR 0.03

p 8.0e-35

N 402,382

Large GWAS

European

erythrocyte volume

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.02

p 8.0e-18

N 480,305

Large GWAS

multi-ancestry

About ATXN2L

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all ATXN2L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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