SNP Detail For rs246196
1.Mapping Information
Human SNP ID rs246196
Human chromosome chr16
Human SNP position 58540349
Pig chromosome chr6
Pig SNP position 18456594
2.Annotation Information
PubMed ID24952745
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24952745
StudyGenetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Disease/TraitQT interval
Initial sampleUp to 70,389 European ancestry individuals, up to 672 Orcadian individuals
Replication sampleUp to 33,316 European ancestry individuals
Region16q21
Chromosome idchr16
Chromosome position58540349
Reported geneCNOT1
Mapped geneCNOT1
Upstream gene id
Downstream gene id
SNP gene ids23019
Upstream gene distance
Downstream gene distance
SNP risk allelers246196-C
SNPsrs246196
Merged0
SNP id current246196
Contextintron_variant
Intergenic0
Allele frequency0.259
P value2E-57
Pvalue mlog56.698970004336
P value text
Or beta1.73
%95 Ci[1.51-1.95] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitQT interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004682
Study accessionGCST002500