SNP Detail For rs2717068
1.Mapping Information
Human SNP ID rs2717068
Human chromosome chr2
Human SNP position 57867738
Pig chromosome chr3
Pig SNP position 88297016
2.Annotation Information
PubMed ID22949513
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22949513
StudyGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
Disease/TraitEpilepsy (generalized)
Initial sample702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls
Replication sample347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry
Region2p16.1
Chromosome idchr2
Chromosome position57867738
Reported geneintergenic
Mapped geneLOC105377632
Upstream gene id
Downstream gene id
SNP gene ids105377632
Upstream gene distance
Downstream gene distance
SNP risk allelers2717068-T
SNPsrs2717068
Merged0
SNP id current2717068
Contextintergenic_variant
Intergenic0
Allele frequency0.412
P value0.0000004
Pvalue mlog6.39794000867203
P value text(GAE)
Or beta1.27
%95 Ci[1.16-1.40]
PlatformAffymetrix [4560000] (imputed)
CNVN
Mapped traitepilepsy
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000474
Study accessionGCST001662