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rs12593813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 <0.71x risk for restless legs
(A;G) 1.5 0.71x risk for restless legs
(G;G) 1 normal risk of restless leg syndrome
ReferenceGRCh38 38.1/141
Chromosome15
Position67744514
GeneMAP2K5
is asnp
is mentioned by
dbSNPrs12593813
ebirs12593813
HLIrs12593813
Exacrs12593813
Varsomers12593813
Maprs12593813
PheGenIrs12593813
hapmaprs12593813
1000 genomesrs12593813
hgdprs12593813
ensemblrs12593813
gopubmedrs12593813
geneviewrs12593813
scholarrs12593813
googlers12593813
pharmgkbrs12593813
gwascentralrs12593813
openSNPrs12593813
23andMers12593813
23andMe allrs12593813
SNP Nexus

SNPshotrs12593813
SNPdbers12593813
MSV3drs12593813
GWAS Ctlgrs12593813
GMAF0.4545
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs12593813, a SNP located in a region of chromosome 15q, has been linked to a lower frequency of restless legs syndrome, a common sleep disorder, with an overall odds ratio of 0.71 (CI: 0.60-0.83) for the (A) minor allele. [PMID 17637780]
Neighborrs11635424
Distance726
GWAS
SNP rs12593813
PubMedID [PMID 17637780]
Condition Restless legs syndrome
Gene MAP2K5, LBXCOR1
Risk Allele G
pValue 1.00E-015
OR 1.5
95% CI 1.36-1.66


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



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 1E-22
Odds Ratio 1.4100 [1.32-1.52]


GET Evidence
rs12593813
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.398438
summary



Restless Legs Syndrome: Preliminary Research


[PMID 23543094OA-icon.png] Testing for associations between loci and environmental gradients using latent factor mixed models.