rs8047940

This is a intron variant variant in the NDE1 gene.

GWAS Catalog Trait Associations (2)

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

drug use measurement, gut microbiome measurement

Stickley SA et al. Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy. The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)
Allele T
OR 1.19
p 7.0e-10
N 693
Small GWAS
multi-ancestry

level of Phosphatidylcholine (18:0_20:3) in blood serum

Tabassum R et al. Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids. Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.15
p 4.0e-9
N 4,642
Large GWAS
European

About NDE1

This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

View all NDE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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