SNP Detail For rs436582
1.Mapping Information
Human SNP ID rs436582
Human chromosome chr9
Human SNP position 116194389
Pig chromosome chr1
Pig SNP position 287945628
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
Region9q33.1
Chromosome idchr9
Chromosome position116194389
Reported genePAPPA
Mapped genePAPPA
Upstream gene id
Downstream gene id
SNP gene ids5069
Upstream gene distance
Downstream gene distance
SNP risk allelers436582-?
SNPsrs436582
Merged0
SNP id current436582
Contextintron_variant
Intergenic0
Allele frequency
P value0.000003
Pvalue mlog5.52287874528033
P value text(EA, Inherited)
Or beta2.64
%95 Ci[1.73-4.03]
PlatformIllumina [2421290] (imputed)
CNVN
Mapped traitConotruncal heart malformations
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_2445
Study accessionGCST002438