SNP Detail For rs1975197
1.Mapping Information
Human SNP ID rs1975197
Human chromosome chr9
Human SNP position 8846955
Pig chromosome chr1
Pig SNP position 238408016
2.Annotation Information
PubMed ID18660810
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18660810
StudyPTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Disease/TraitRestless legs syndrome
Initial sample628 European ancestry cases, 1,644 European ancestry controls
Replication sample1,550 European ancestry cases, 2,269 European ancestry controls, 285 French Canadian founder cases, 842 French Canadian founder controls
Region9p24.1
Chromosome idchr9
Chromosome position8846955
Reported genePTPRD
Mapped genePTPRD
Upstream gene id
Downstream gene id
SNP gene ids5789
Upstream gene distance
Downstream gene distance
SNP risk allelers1975197-T
SNPsrs1975197
Merged0
SNP id current1975197
Contextintron_variant
Intergenic0
Allele frequency0.16
P value0.000000006
Pvalue mlog8.22184874961635
P value text
Or beta1.31
%95 Ci[1.20-1.44]
PlatformAffymetrix [208733]
CNVN
Mapped traitrestless legs syndrome
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004270
Study accessionGCST000214
PubMed ID21779176
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21779176
StudyGenome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
Disease/TraitRestless legs syndrome
Initial sample922 European ancestry cases, 1,526 European ancestry controls
Replication sample3,935 European ancestry cases, 5,754 European ancestry controls
Region9p24.1
Chromosome idchr9
Chromosome position8846955
Reported genePTPRD
Mapped genePTPRD
Upstream gene id
Downstream gene id
SNP gene ids5789
Upstream gene distance
Downstream gene distance
SNP risk allelers1975197-A
SNPsrs1975197
Merged0
SNP id current1975197
Contextintron_variant
Intergenic0
Allele frequency0.16
P value0.0000000003
Pvalue mlog9.52287874528033
P value text
Or beta1.29
%95 Ci[1.19-1.40]
PlatformAffymetrix [301406]
CNVN
Mapped traitrestless legs syndrome
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004270
Study accessionGCST001159