rs2817419

This is a 3 prime utr variant variant in the TFAP2B gene.

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GWAS Catalog Trait Associations (4)

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

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.03
p 4.0e-49
N 694,649
Large GWAS
European
Wong HS et al. “Genome-wide association study identifies genetic risk loci for adiposity in a Taiwanese population.” Plos Genetics 18(1):e1009952 (2022)
Allele A
OR 0.03
p 6.0e-26
N 890,751
Large GWAS
multi-ancestry

hemoglobin measurement

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR —
p 6.0e-13
N 746,431
Large GWAS
multi-ancestry

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 1.05
p 1.0e-11
N 1,011,521
Large GWAS
European

About TFAP2B

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]

View all TFAP2B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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