rs79756578

This variant is located in the TFAP2D gene.

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GWAS Catalog Trait Associations (1)

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

cysteine-rich secretory protein 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.19
p 3.0e-18
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication
View on ClinVar →

About TFAP2D

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II and regulation of cell population proliferation. Predicted to act upstream of or within inferior colliculus development; negative regulation of neuron apoptotic process; and positive regulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all TFAP2D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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