rs1975197

minus

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

Reference

GRCh38 38.1/142

Chromosome

9

Position

8846955

Gene

PTPRD

is a	snp
is	mentioned by
dbSNP	rs1975197
dbSNP (classic)	rs1975197
ClinGen	rs1975197
ebi	rs1975197
HLI	rs1975197
Exac	rs1975197
Gnomad	rs1975197
Varsome	rs1975197
LitVar	rs1975197
Map	rs1975197
PheGenI	rs1975197
Biobank	rs1975197
1000 genomes	rs1975197
hgdp	rs1975197
ensembl	rs1975197
geneview	rs1975197
scholar	rs1975197
google	rs1975197
pharmgkb	rs1975197
gwascentral	rs1975197
openSNP	rs1975197
23andMe	rs1975197
SNPshot	rs1975197
SNPdbe	rs1975197
MSV3d	rs1975197
GWAS Ctlg	rs1975197

GMAF

0.2089

Max Magnitude

2

?

(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

OMIM	610438
Desc	RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3
Variant
Related	also

[PMID 21264940 ] Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome

GWAS snp
PMID	[PMID 21779176 ]
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]

Restless Legs Syndrome: Preliminary Research

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