rs74511478

This is a intron variant variant in the MCPH1 gene.

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GWAS Catalog Trait Associations (1)

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

delivery 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 —

β 0.140

p 6.0e-13

N 693

Small GWAS

multi-ancestry

About MCPH1

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

View all MCPH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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