rs12229918

This variant is located in the MSRB3 gene.

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GWAS Catalog Trait Associations (3)

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

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 C

OR 0.22

p 7.0e-14

N 11,118

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 C

OR 6.30

p 3.0e-10

N 14,805

Large GWAS

European, NR

odontogenesis

Allele C

OR 0.15

p 2.0e-9

N 11,513

Large GWAS

European

About MSRB3

The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]

View all MSRB3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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