SNP Detail For rs12053903
1.Mapping Information
Human SNP ID rs12053903
Human chromosome chr3
Human SNP position 38551902
Pig chromosome chr13
Pig SNP position 25519768
2.Annotation Information
PubMed ID19305408
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19305408
StudyCommon variants at ten loci influence QT interval duration in the QTGEN Study.
Disease/TraitQT interval
Initial sample13,685 European ancestry individuals
Replication sample15,854 European ancestry individuals
Region3p22.2
Chromosome idchr3
Chromosome position38551902
Reported geneSCN5A
Mapped geneSCN5A
Upstream gene id
Downstream gene id
SNP gene ids6331
Upstream gene distance
Downstream gene distance
SNP risk allelers12053903-C
SNPsrs12053903
Merged0
SNP id current12053903
Contextintron_variant
Intergenic0
Allele frequency0.34
P value0.00000000000001
Pvalue mlog14
P value text
Or beta1.23
%95 Ci[0.88-1.57] msec decrease
PlatformAffymetrix, Illumina [up to 2543686] (imputed)
CNVN
Mapped traitQT interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004682
Study accessionGCST000363
PubMed ID20062063
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20062063
StudySeveral common variants modulate heart rate, PR interval and QRS duration.
Disease/TraitElectrocardiographic traits
Initial sampleUp to 12,670 European ancestry individuals
Replication sampleUp to 10,352 European ancestry individuals
Region3p22.2
Chromosome idchr3
Chromosome position38551902
Reported geneSCN5A
Mapped geneSCN5A
Upstream gene id
Downstream gene id
SNP gene ids6331
Upstream gene distance
Downstream gene distance
SNP risk allelers12053903-T
SNPsrs12053903
Merged0
SNP id current12053903
Contextintron_variant
Intergenic0
Allele frequency0.72
P value0.0000001
Pvalue mlog7
P value text(PR interval)
Or beta6.59
%95 Ci[4.16-9.03] % s.d. decrease
PlatformIllumina [306060]
CNVN
Mapped traitPR interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004462
Study accessionGCST000561