SNP Detail For rs2300478
1.Mapping Information
Human SNP ID rs2300478
Human chromosome chr2
Human SNP position 66554321
Pig chromosome chr3
Pig SNP position 79170555
2.Annotation Information
PubMed ID17637780
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17637780
StudyGenome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Disease/TraitRestless legs syndrome
Initial sample401 European ancestry cases, 1,644 European ancestry controls
Replication sample906 European ancestry cases, 891 European ancestry controls, 255 French Canadian cases, 287 French Canadian controls
Region2p14
Chromosome idchr2
Chromosome position66554321
Reported geneMEIS1
Mapped geneMEIS1
Upstream gene id
Downstream gene id
SNP gene ids4211
Upstream gene distance
Downstream gene distance
SNP risk allelers2300478-G
SNPsrs2300478
Merged0
SNP id current2300478
Contextintron_variant
Intergenic0
Allele frequency0.24
P value3E-28
Pvalue mlog27.5228787452803
P value text
Or beta1.74
%95 Ci[1.57-1.92]
PlatformAffymetrix [236758]
CNVN
Mapped traitrestless legs syndrome
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004270
Study accessionGCST000056
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
Region2p14
Chromosome idchr2
Chromosome position66554321
Reported geneMEIS1
Mapped geneMEIS1
Upstream gene id
Downstream gene id
SNP gene ids4211
Upstream gene distance
Downstream gene distance
SNP risk allelers2300478-G
SNPsrs2300478
Merged0
SNP id current2300478
Contextintron_variant
Intergenic0
Allele frequency0.24
P value3E-49
Pvalue mlog48.5228787452803
P value text
Or beta1.68
%95 Ci[1.57-1.81]
PlatformAffymetrix [301406]
CNVN
Mapped traitrestless legs syndrome
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004270
Study accessionGCST001159