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rs1975197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1 Normal risk of developing restless legs syndrome
(C;T) 1.5 1.3x increased risk of developing restless legs syndrome
(G;G) 0
(T;T) 2 >1.3x increased risk of developing restless legs syndrome
ReferenceGRCh38 38.1/142
Chromosome9
Position8846955
GenePTPRD
is asnp
is mentioned by
dbSNPrs1975197
ebirs1975197
HLIrs1975197
Exacrs1975197
Varsomers1975197
Maprs1975197
PheGenIrs1975197
hapmaprs1975197
1000 genomesrs1975197
hgdprs1975197
ensemblrs1975197
gopubmedrs1975197
geneviewrs1975197
scholarrs1975197
googlers1975197
pharmgkbrs1975197
gwascentralrs1975197
openSNPrs1975197
23andMers1975197
23andMe allrs1975197
SNP Nexus

SNPshotrs1975197
SNPdbers1975197
MSV3drs1975197
GWAS Ctlgrs1975197
GMAF0.2089
Max Magnitude2
? (C;C) (C;T) (T;T) 28
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.

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


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
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 A
P-val 3E-10
Odds Ratio 1.2900 [1.19-1.40]


GET Evidence
rs1975197
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.195312
summary



Restless Legs Syndrome: Preliminary Research


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