SNP Detail For rs2276314
1.Mapping Information
Human SNP ID rs2276314
Human chromosome chr18
Human SNP position 35977503
Pig chromosome chr6
Pig SNP position 112268986
2.Annotation Information
PubMed ID24223155
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/24223155
StudyGenome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.
Disease/TraitDrug-induced torsades de pointes
Initial sample216 European ancestry cases, 386 European ancestry drug-exposed controls, 385 European ancestry population controls
Replication sampleNA
Region18q12.2
Chromosome idchr18
Chromosome position35977503
Reported geneC18orf21, RPRD1A, MIR187, GALNT1
Mapped geneC18orf21
Upstream gene id
Downstream gene id
SNP gene ids83608
Upstream gene distance
Downstream gene distance
SNP risk allelers2276314-?
SNPsrs2276314
Merged0
SNP id current2276314
Contextmissense_variant
Intergenic0
Allele frequency0.19
P value0.0000004
Pvalue mlog6.39794000867203
P value text(all controls combined)
Or beta2
%95 Ci[1.5-2.6]
PlatformIllumina [3542142] (imputed)
CNVN
Mapped traittorsades de pointes, response to drug
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005307, http://purl.obolibrary.org/obo/GO_0042493
Study accessionGCST002269