rs6135551

This is a intron variant variant in the MACROD2 gene.

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GWAS Catalog Trait Associations (1)

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

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)

Allele C

OR 6.78

p 1.0e-11

N 33,748

Large GWAS

European

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 C

OR —

p 2.0e-10

N 35,657

Large GWAS

European

About MACROD2

The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]

View all MACROD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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