SNP Detail For rs365990
1.Mapping Information
Human SNP ID rs365990
Human chromosome chr14
Human SNP position 23392602
Pig chromosome chr7
Pig SNP position 81048305
2.Annotation Information
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
Region14q11.2
Chromosome idchr14
Chromosome position23392602
Reported geneMYH6
Mapped geneMYH6
Upstream gene id
Downstream gene id
SNP gene ids4624
Upstream gene distance
Downstream gene distance
SNP risk allelers365990-G
SNPsrs365990
Merged0
SNP id current365990
Contextmissense_variant
Intergenic0
Allele frequency0.34
P value0.00000000009
Pvalue mlog10.0457574905606
P value text(HR)
Or beta5.25
%95 Ci[3.66-6.83] % s.d. increase
PlatformIllumina [306060]
CNVN
Mapped traitheart rate
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004326
Study accessionGCST000561
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
Region14q11.2
Chromosome idchr14
Chromosome position23392602
Reported geneMYH6
Mapped geneMYH6
Upstream gene id
Downstream gene id
SNP gene ids4624
Upstream gene distance
Downstream gene distance
SNP risk allelers365990-G
SNPsrs365990
Merged0
SNP id current365990
Contextmissense_variant
Intergenic0
Allele frequency0.353
P value5E-45
Pvalue mlog44.3010299956639
P value text
Or beta0.564
%95 Ci[0.47-0.66] unit increase
PlatformAffymetrix, Illumina [2516789] (imputed)
CNVN
Mapped traitheart rate
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004326
Study accessionGCST001969