rs12469063

This is a intron variant variant in the MEIS1 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele G

OR 0.01

p 6.0e-32

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)

Allele A

OR 0.02

p 3.0e-17

N 426,824

Large GWAS

European

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Research that mentions this SNP (1)

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Prevalence and determinants of periodic limb movements in the general population

AssociationN=2,162José Haba‐Rubio et al.(2016)· Annals of Neurology

Population-based study of 2162 European adults assessing prevalence and genetic determinants of periodic limb movements during sleep (PLMS). PLMS with index >15/h was present in 28.6% of the population. Genome-wide association study and candidate gene analysis identified SNP rs3923809 in BTBD9 as showing genome-wide significant association (p=9.10e-10), with AA homozygotes showing almost threefold higher PLMS index than non-carriers. Additional significant associations found with rs3104788 (TOX3, p=1.98e-05) and rs2300478 (MEIS1, p=0.0452). In multivariate analysis, age, male gender, antidepressant use, RLS, and these three SNP variants were independent predictors of PLMSI >15/h.

Traits studied:Periodic limb movement disorder (PLMD)Periodic limb movements during sleep (PLMS)Restless legs syndrome (RLS)

PubMed DOI Metascience Observatory

About MEIS1

Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008]