rs2206271

This is a upstream gene variant variant in the TFAP2B gene.

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GWAS Catalog Trait Associations (7)

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

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 T
OR 0.05
p 8.0e-47
N 609,198
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 2.0e-16
N 165,419
Large GWAS
East Asian

nephrolithiasis

Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)
Allele A
OR 1.09
p 7.0e-20
N 975,370
Large GWAS
multi-ancestry
Lovegrove CE et al. “Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.” Journal of the American Society of Nephrology : Jasn 34(12):1991-2011 (2023)
Allele A
OR 1.08
p 4.0e-10
N 739,048
Large GWAS
European
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 A
OR 0.07
p 6.0e-18
N 435,154
Major Consortium StudyLarge GWAS
European

bladder calculus

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 T
OR 0.07
p 7.0e-18
N 433,456
Major Consortium StudyLarge GWAS
European

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 T
OR 0.02
p 4.0e-14
N 601,780
Major Consortium StudyLarge GWAS
multi-ancestry

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 T
OR 0.04
p 2.0e-11
N 611,168
Major Consortium StudyLarge GWAS
multi-ancestry

diabetic neuropathy

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 T
OR 0.04
p 2.0e-11
N 434,644
Major Consortium StudyLarge GWAS
European

body mass index

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 T
OR 0.05
p 4.0e-45
N 607,391
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 4.0e-18
N 163,835
Large GWAS
East Asian
Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)
Allele T
OR 0.03
p 3.0e-18
N 158,284
Large 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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