SNP Detail For rs11153730
1.Mapping Information
Human SNP ID rs11153730
Human chromosome chr6
Human SNP position 118346359
Pig chromosome chr1
Pig SNP position 48853839
2.Annotation Information
PubMed ID19587794
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/19587794
StudyCommon genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.
Disease/TraitQT interval
Initial sample3,558 European ancestry individuals
Replication sample29,527 European ancestry individuals
Region6q22.31
Chromosome idchr6
Chromosome position118346359
Reported geneC6orf204, SLC35F1, PLN
Mapped geneLOC105377968
Upstream gene id
Downstream gene id
SNP gene ids105377968
Upstream gene distance
Downstream gene distance
SNP risk allelers11153730-C
SNPsrs11153730
Merged0
SNP id current11153730
Contextintergenic_variant
Intergenic0
Allele frequency0.5
P value2E-29
Pvalue mlog28.698970004336
P value text
Or beta0.09
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [~ 2399142] (imputed)
CNVN
Mapped traitQT interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004682
Study accessionGCST000444
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
Region6q22.31
Chromosome idchr6
Chromosome position118346359
Reported geneSLC35F1, PLN
Mapped geneLOC105377968
Upstream gene id
Downstream gene id
SNP gene ids105377968
Upstream gene distance
Downstream gene distance
SNP risk allelers11153730-T
SNPsrs11153730
Merged0
SNP id current11153730
Contextintergenic_variant
Intergenic0
Allele frequency0.502
P value2E-67
Pvalue mlog66.698970004336
P value text
Or beta1.65
%95 Ci[1.45-1.85] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitQT interval
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004682
Study accessionGCST002500
PubMed ID23583979
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23583979
StudyIdentification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Disease/TraitHeart rate
Initial sample85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals
Replication sample88,823 European ancestry individuals
Region6q22.31
Chromosome idchr6
Chromosome position118346359
Reported geneSLC35F1
Mapped geneLOC105377968
Upstream gene id
Downstream gene id
SNP gene ids105377968
Upstream gene distance
Downstream gene distance
SNP risk allelers11153730-T
SNPsrs11153730
Merged0
SNP id current11153730
Contextintergenic_variant
Intergenic0
Allele frequency0.509
P value8E-21
Pvalue mlog20.096910013008
P value text
Or beta0.381
%95 Ci[0.29-0.47] unit increase
PlatformAffymetrix, Illumina [2516789] (imputed)
CNVN
Mapped traitheart rate
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004326
Study accessionGCST001969