Rs1975197

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dbSNPrs1975197
hapmaprs1975197
hgdprs1975197
ensemblrs1975197
gopubmedrs1975197
scholarrs1975197
googlers1975197
pharmgkbrs1975197
hgvbaseg2prs1975197
medrefsnprs1975197
23andMers1975197
SNP Nexus

GenePTPRD
Chromosome9
Orientationminus
Position8836954
GenotypeEffect
rs1975197(C;C)normal
rs1975197(C;T)1.3x increased risk for restless legs syndrome
rs1975197(T;T)>1.3x increased risk for restless legs syndrome


Genotypes Magnitude Summary
Rs1975197(C;C) 00 normal
Rs1975197(C;T) 1.3x increased risk for restless legs syndrome
Rs1975197(G;G) 00
Rs1975197(T;T) >1.3x increased risk for restless legs syndrome

rs1975197, 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 rs1975197(T) risk allele is 1.31 (CI: 1.20-1.44, adjusted p = 5 x10e-9). [PMID 18660810]

Note that a nearby SNP, rs4626664, was also shown to independently confer risk for restless legs syndrome in this same study.

? (C;C) (C;T) (T;T)
GWAS
SNP rs1975197
PubMedID [PMID 18660810]
Condition Restless legs syndrome
Gene PTPRD
Risk Allele T
pValue 6.00E-009
OR 1.31
95% CI 1.20-1.44


Related to RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3 according to omim 610438. See also


PharmGKBPA162168966
Name
AnnotationA study of 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada identified association of restless legs syndrome (RLS) with this variant in the 5' UTR of PTPRD gene.
GenePTPRD
Featue
EvidencePubMed ID:18660810
Drugs
DiseasesRestless Legs Syndrome
Curation LevelCurated