rs34726834

This is a intron variant variant in the EBF2 gene.

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GWAS Catalog Trait Associations (1)

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

vitamin D level

Manousaki D et al. “Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.” American Journal of Human Genetics 106(3):327-337 (2020)

Allele T

OR 0.01

p 7.0e-10

N 443,734

Large GWAS

European

Wang X et al. “Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D.” Plos Genetics 19(11):e1011033 (2023)

Allele T

OR 0.01

p 2.0e-8

N 409,654

Large GWAS

European

About EBF2

The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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