SNP Detail For rs6545278
1.Mapping Information
Human SNP ID rs6545278
Human chromosome chr2
Human SNP position 52478914
Pig chromosome chr3
Pig SNP position 93837594
2.Annotation Information
PubMed ID24800985
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/24800985
StudyGenome-wide association study of maternal and inherited loci for conotruncal heart defects.
Disease/TraitConotruncal heart defects
Initial sample537 European ancestry case-parent trios, 213 case-parent trios
Replication sample348 European ancestry case-parent trios, 10 case-parent trios
Region2p16.3
Chromosome idchr2
Chromosome position52478914
Reported geneAC139712.2
Mapped geneLOC730100 - LOC105374598
Upstream gene id730100
Downstream gene id105374598
SNP gene ids
Upstream gene distance70997
Downstream gene distance212389
SNP risk allelers6545278-?
SNPsrs6545278
Merged0
SNP id current6545278
Contextupstream_gene_variant
Intergenic1
Allele frequency
P value0.0000008
Pvalue mlog6.09691001300805
P value text(EA, Inherited)
Or beta2.62
%95 Ci[1.76-3.90]
PlatformIllumina [2421290] (imputed)
CNVN
Mapped traitConotruncal heart malformations
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_2445
Study accessionGCST002438