rs2300478

This is a intron variant variant in the MEIS1 gene.

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GWAS Catalog Trait Associations (1)

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

restless legs syndrome

Winkelmann J et al. “Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.” Plos Genetics 7(7):e1002171 (2011)
Allele G
OR 1.68
p 3.0e-49
N 2,448
Large GWAS
European
Tilch E et al. “ExomeChip-based rare variant association study in restless legs syndrome.” Sleep Medicine 94:26-30 (2022)
Allele G
OR 1.60
p 1.0e-35
N 9,012
Large GWAS
European
Winkelmann J et al. “Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.” Nature Genetics 39(8):1000-6 (2007)
Allele G
OR 1.74
p 3.0e-28
N 2,045
Large GWAS
European
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Research that mentions this SNP (2)

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Association of genetic variants in migraineurs with and without restless legs syndrome
AssociationN=233Guan‐Yu Lin et al.(2020)· Annals of Clinical and Translational Neurology

Association study of 233 Taiwanese migraineurs examining SNP variants related to restless legs syndrome (RLS) comorbidity. Two SNPs reached genome-wide significance: rs77234324 in LGR6 (OR=8.978, P=2.57E-07) and rs79004933 in an intergenic region (OR=5.281, P=3.03E-07) were associated with RLS in migraineurs. Five additional SNPs (including rs4243475 in UTRN) were associated with RLS specifically in migraine without aura patients.

Traits studied:Chronic migraineEpisodic migraineMigraine with auraMigraine without auraRestless legs syndrome
PubMedDOIMetascience Observatory
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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)
PubMedDOIMetascience 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]

View all MEIS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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