rs2744475

This variant is located in the TFAP2B gene.

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GWAS Catalog Trait Associations (5)

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

body mass index

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele G
OR 0.05
p 7.0e-40
N 153,950
Large GWAS
East Asian
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.05
p 5.0e-24
N 118,995
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Gong J et al. “Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.” International Journal of Obesity (2005) 42(3):384-390 (2018)
Allele G
OR 0.01
p 7.0e-12
N 102,514
Large GWAS
multi-ancestry

grip strength measurement

Tikkanen E et al. “Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank.” Scientific Reports 8(1):6451 (2018)
Allele C
OR 0.00
p 2.0e-20
N 334,825
Major Consortium StudyLarge GWAS
European

type 2 diabetes mellitus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 1.0e-11
N 612,947
Major Consortium StudyLarge GWAS
multi-ancestry

body weight

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 1.0e-23
N 119,284
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

glucose measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 3.0e-14
N 601,111
Major Consortium StudyLarge GWAS
multi-ancestry

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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