rs2300478
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (G;G) | 2 | >1.7x risk for developing restless legs syndrome |
| (G;T) | 1.5 | 1.7x risk for developing restless legs syndrome |
| (T;T) | 1 | Normal risk of developing restless legs syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 66554321 |
| Gene | MEIS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2300478 |
| dbSNP (classic) | rs2300478 |
| ClinGen | rs2300478 |
| ebi | rs2300478 |
| HLI | rs2300478 |
| Exac | rs2300478 |
| Gnomad | rs2300478 |
| Varsome | rs2300478 |
| LitVar | rs2300478 |
| Map | rs2300478 |
| PheGenI | rs2300478 |
| Biobank | rs2300478 |
| 1000 genomes | rs2300478 |
| hgdp | rs2300478 |
| ensembl | rs2300478 |
| geneview | rs2300478 |
| scholar | rs2300478 |
| rs2300478 | |
| pharmgkb | rs2300478 |
| gwascentral | rs2300478 |
| openSNP | rs2300478 |
| 23andMe | rs2300478 |
| SNPshot | rs2300478 |
| SNPdbe | rs2300478 |
| MSV3d | rs2300478 |
| GWAS Ctlg | rs2300478 |
| GMAF | 0.2218 |
| Max Magnitude | 2 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2300478, a SNP located in the MEIS1 gene, has been linked to restless legs syndrome, a common sleep disorder, with an overall odds ratio of 1.78 (CI: 1.52-2.09) for the (G) risk allele [PMID 17637780]. The association between this SNP and RLS has been replicated in three European populations, within family lines but not in sporadic cases [PMID 19279021
].
The highest association to restless legs syndrome is a haplotype consisting of the rs6710341(A) and rs12469063(G) alleles. This haplotype gives rise to an odds ratio of 2.75 (CI: 2.23-3.41) [PMID 17637780].
Variants in MEIS1 rs2300478, BTBD9 rs9357271, and MAP2K5/SKOR1 rs1026732 confer a significant risk of RLS in a US population. [PMID 21925394]
In another study, rs2300478 was not associated with attention deficit hyperactivity disorder (ADHD). [PMID 19223043]
| GWAS | |
|---|---|
| SNP | rs2300478 |
| PubMedID | [PMID 17637780] |
| Condition | Restless legs syndrome |
| Gene | MEIS1 |
| Risk Allele | G |
| pValue | 3.00E-028 |
| OR | 1.74 |
| 95% CI | 1.57-1.92 |
[PMID 19223043] Exploring the genetic link between RLS and ADHD
| GWAS snp | |
|---|---|
| PMID | [PMID 21779176]
|
| Trait | |
| Title | Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. |
| Risk Allele | G |
| P-val | 3E-49 |
| Odds Ratio | 1.6800 [1.57-1.81] |
[PMID 21925394] Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.
[PMID 19126776] MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.
Restless Legs Syndrome: Preliminary Research
[PMID 26643377] Susceptible genes of restless legs syndrome in migraine.
[PMID 26703954] Prevalence and determinants of periodic limb movements in the general population.
