rs144403225

This variant is located in the TFAP4 gene.

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GWAS Catalog Trait Associations (1)

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

cerebral cortex area attribute

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

Allele G

OR 8.39

p 5.0e-17

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 G

OR —

p 1.0e-15

N 35,657

Large GWAS

European

About TFAP4

Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]

View all TFAP4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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