rs12534093

This is a intron variant variant in the IGF2BP3 gene.

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GWAS Catalog Trait Associations (6)

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

body height

Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele A
OR —
β 0.034
p 2.0e-14
N 133,653
Large GWAS
European

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 0.03
p 2.0e-11
N 609,196
Major Consortium StudyLarge GWAS
multi-ancestry

birth weight

Plotnikov D et al. “Association between birth weight and refractive error in adulthood: a Mendelian randomisation study.” The British Journal of Ophthalmology 104(2):214-219 (2020)
Allele A
OR 0.02
p 2.0e-10
N 188,039
Large GWAS
European
Yang XL et al. “Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis.” Frontiers in Genetics 10:947 (2019)
Allele A
OR 0.03
p 7.0e-10
N 182,902
Large GWAS
European

body height at birth

Yang XL et al. “Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis.” Frontiers in Genetics 10:947 (2019)
Allele A
OR 0.04
p 1.0e-9
N 182,902
Large GWAS
European

head circumference

Yang XL et al. “Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis.” Frontiers in Genetics 10:947 (2019)
Allele A
OR 0.07
p 2.0e-8
N 182,902
Large GWAS
European

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele A
OR 0.01
p 5.0e-8
N 406,504
Large GWAS
European

About IGF2BP3

The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]

View all IGF2BP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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