rs182717611

This is a intron variant variant in the SEH1L gene.

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GWAS Catalog Trait Associations (1)

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

airway imaging measurement

Manichaikul A et al. “Genome-wide association study of subclinical interstitial lung disease in MESA.” Respiratory Research 18(1):97 (2017)

Allele T

OR 0.17

p 5.0e-8

N 7,671

Large GWAS

multi-ancestry

About SEH1L

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all SEH1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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