rs1452787

This is a intron variant variant in the TCF4 gene.

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GWAS Catalog Trait Associations (4)

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

neuroticism measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele G
OR 0.01
p 4.0e-10
N 523,783
Large GWAS
European

depressive symptom measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele G
OR 0.01
p 5.0e-10
N 1,067,913
Large GWAS
European

wellbeing measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele G
OR 0.01
p 9.0e-10
N 410,603
Large GWAS
European

About TCF4

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]

View all TCF4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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