SNP Detail For rs846111
1.Mapping Information
Human SNP ID rs846111
Human chromosome chr1
Human SNP position 6219310
Pig chromosome chr6
Pig SNP position 62022605
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
Region1p36.31
Chromosome idchr1
Chromosome position6219310
Reported geneNPHP4, CHDS, ACOT7, PLEKHG5, KLH21, RNF207
Mapped geneRNF207
Upstream gene id
Downstream gene id
SNP gene ids388591
Upstream gene distance
Downstream gene distance
SNP risk allelers846111-C
SNPsrs846111
Merged0
SNP id current846111
Contextmissense_variant
Intergenic0
Allele frequency0.28
P value0.0000000000000001
Pvalue mlog16
P value text
Or beta1.75
%95 Ci[1.41-2.09] msec increase
PlatformAffymetrix, Illumina [up to 2543686] (imputed)
CNVN
Mapped traitQT interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004682
Study accessionGCST000363
PubMed ID19305409
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19305409
StudyCommon variants at ten loci modulate the QT interval duration in the QTSCD Study.
Disease/TraitQT interval
Initial sample15,842 European ancestry individuals
Replication sampleup to 13,602 individuals
Region1p36.31
Chromosome idchr1
Chromosome position6219310
Reported geneRNF207
Mapped geneRNF207
Upstream gene id
Downstream gene id
SNP gene ids388591
Upstream gene distance
Downstream gene distance
SNP risk allelers846111-C
SNPsrs846111
Merged0
SNP id current846111
Contextmissense_variant
Intergenic0
Allele frequency0.29
P value0.0000000000000004
Pvalue mlog15.397940008672
P value text
Or beta1.49
%95 Ci[1.00-1.98] ms increase
PlatformAffymetrix, Illumina [2557000] (imputed)
CNVN
Mapped traitQT interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004682
Study accessionGCST000364
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
Region1p36.31
Chromosome idchr1
Chromosome position6219310
Reported geneRNF207
Mapped geneRNF207
Upstream gene id
Downstream gene id
SNP gene ids388591
Upstream gene distance
Downstream gene distance
SNP risk allelers846111-C
SNPsrs846111
Merged0
SNP id current846111
Contextmissense_variant
Intergenic0
Allele frequency0.283
P value7E-40
Pvalue mlog39.1549019599857
P value text
Or beta1.73
%95 Ci[1.48-1.98] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitQT interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004682
Study accessionGCST002500