rs1994969

This is a downstream gene variant variant in the IGF2BP1 gene.

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GWAS Catalog Trait Associations (3)

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

odontogenesis

Fatemifar G et al. “Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.” Human Molecular Genetics 22(18):3807-17 (2013)
Allele T
OR 0.19
p 7.0e-16
N 11,513
Large GWAS
European

number of teeth

Grgic O et al. “Novel Genetic Determinants of Dental Maturation in Children.” Journal of Dental Research 102(3):349-356 (2023)
Allele T
OR 7.90
p 4.0e-15
N 14,805
Large GWAS
European, NR

tooth eruption

Fatemifar G et al. “Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.” Human Molecular Genetics 22(18):3807-17 (2013)
Allele T
OR —
β 0.027
p 2.0e-14
N 11,118
Large GWAS
European

About IGF2BP1

This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

View all IGF2BP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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