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Rs2300478

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Orientationplus
is asnp
is mentioned by
dbSNPrs2300478
PheGenIrs2300478
nextbiors2300478
hapmaprs2300478
1000 genomesrs2300478
hgdprs2300478
ensemblrs2300478
gopubmedrs2300478
geneviewrs2300478
scholarrs2300478
googlers2300478
pharmgkbrs2300478
gwascentralrs2300478
openSNPrs2300478
23andMers2300478
23andMe allrs2300478
SNP Nexus

SNPshotrs2300478
SNPdbers2300478
MSV3drs2300478
GeneMEIS1
Chromosome2
Orientationplus
GMAF0.2218
Position66554321
ReferenceGRCh38 38.1/141
Max Magnitude2
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
? (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 19279021OA-icon.png].

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 21925394OA-icon.png]

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



OMIM612853
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21779176OA-icon.png]
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 21925394OA-icon.png] Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.


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


GET Evidence
rs2300478
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.226562
summary



Restless Legs Syndrome: Preliminary Research