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rs4626664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 >1.44x increased risk of developing restless legs syndrome
(A;G) 1.5 1.44x increased risk of developing restless legs syndrome
(G;G) 1 Normal risk of developing restless legs syndrome
ReferenceGRCh37 37.1/131
Chromosome9
Position9261737
GenePTPRD
is asnp
is mentioned by
dbSNPrs4626664
ebirs4626664
HLIrs4626664
Exacrs4626664
Varsomers4626664
Maprs4626664
PheGenIrs4626664
hapmaprs4626664
1000 genomesrs4626664
hgdprs4626664
ensemblrs4626664
gopubmedrs4626664
geneviewrs4626664
scholarrs4626664
googlers4626664
pharmgkbrs4626664
gwascentralrs4626664
openSNPrs4626664
23andMers4626664
23andMe allrs4626664
SNP Nexus

SNPshotrs4626664
SNPdbers4626664
MSV3drs4626664
GWAS Ctlgrs4626664
GMAF0.2553
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs4626664, a SNP in the motor neuron PTPRD gene, has been linked to restless legs syndrome based on a study of several European populations totaling ~2,500 patients. The odds ratio associated with the rs4626664(A) risk allele is 1.44 (CI: 1.31-1.59, adjusted p = 5 x 10e-10). [PMID 18660810]

Note that a nearby SNP, rs1975197, was also shown to independently confer risk for restless legs syndrome in this same study.

GWAS
SNP rs4626664
PubMedID [PMID 18660810]
Condition Restless legs syndrome
Gene PTPRD
Risk Allele A
pValue 6.00E-010
OR 1.44
95% CI 1.31-1.59


OMIM610438
DescRESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3
Variant
Relatedalso
[PMID 21264940OA-icon.png] Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome


GET Evidence
rs4626664
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency
summary



Restless Legs Syndrome: Preliminary Research