rs2433143
This variant is located in the MCPH1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
carotid artery thickness
Strawbridge RJ et al. “Carotid Intima-Media Thickness: Novel Loci, Sex-Specific Effects, and Genetic Correlations With Obesity and Glucometabolic Traits in UK Biobank.” Arteriosclerosis, Thrombosis, and Vascular Biology 40(2):446-461 (2020)
Allele C
OR 0.01
p 1.0e-9
N 22,179
Major Consortium StudyLarge GWAS
European
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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