rs2064853

This variant is located in the CSE1L gene.

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GWAS Catalog Trait Associations (1)

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

intelligence

Hill WD et al. “A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.” Molecular Psychiatry 24(2):169-181 (2019)
Allele A
OR 0.03
p 3.0e-19
N 248,482
Large GWAS
European
Davies G et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nature Communications 9(1):2098 (2018)
Allele A
OR 7.62
p 3.0e-14
N 300,486
Large GWAS
European

About CSE1L

Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

View all CSE1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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