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rs12469063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Normal risk of developing restless legs syndrome
(A;G) 1.5 Slightly increased risk of developing restless legs syndrome
(G;G) 2 Increased risk of developing restless legs syndrome
ReferenceGRCh38 38.1/141
Chromosome2
Position66537176
GeneMEIS1
is asnp
is mentioned by
dbSNPrs12469063
dbSNP (classic)rs12469063
ClinGenrs12469063
ebirs12469063
HLIrs12469063
Exacrs12469063
Gnomadrs12469063
Varsomers12469063
LitVarrs12469063
Maprs12469063
PheGenIrs12469063
Biobankrs12469063
1000 genomesrs12469063
hgdprs12469063
ensemblrs12469063
geneviewrs12469063
scholarrs12469063
googlers12469063
pharmgkbrs12469063
gwascentralrs12469063
openSNPrs12469063
23andMers12469063
SNPshotrs12469063
SNPdbers12469063
MSV3drs12469063
GWAS Ctlgrs12469063
GMAF0.1928
Max Magnitude2
? (A;A) (A;G) (G;G) 28


rs12469063, 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: 1.52-2.10) for the (G) risk allele. [PMID 17637780]

The association from this region that gives the highest association to restless legs syndrome, however, 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]


[PMID 19223043] Exploring the genetic link between RLS and ADHD

OMIM612853
Desc
Variant
Relatedalso

[PMID 19126776OA-icon.png] MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

[PMID 19279021OA-icon.png] Replication of restless legs syndrome loci in three European populations.

[PMID 20396431OA-icon.png] Genotyping sleep disorders patients.


[PMID 25142570OA-icon.png] Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD