rs2916733
This is a regulatory region variant variant in the MCPH1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cortical thickness
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele A
OR —
p 4.0e-14
N 35,657
Large GWAS
European
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 7.10
p 1.0e-12
N 33,748
Large GWAS
European
Decreased total leukocyte count
Srinivasan Y et al. “Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.” Pharmacogenetics and Genomics 21(9):552-8 (2011)
Allele C
OR 2.74
p 2.0e-9
N 270
Small GWAS
East Asian
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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