SNP Detail For rs6140038
1.Mapping Information
Human SNP ID rs6140038
Human chromosome chr20
Human SNP position 6601515
Pig chromosome chr17
Pig SNP position 16931739
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
Region20p12.3
Chromosome idchr20
Chromosome position6601515
Reported geneAL121911.1
Mapped geneCASC20 - LOC105372516
Upstream gene id101929244
Downstream gene id105372516
SNP gene ids
Upstream gene distance73056
Downstream gene distance129276
SNP risk allelers6140038-?
SNPsrs6140038
Merged0
SNP id current6140038
Contextintergenic_variant
Intergenic1
Allele frequency0.011
P value0.000001
Pvalue mlog6
P value text(EA, Inherited)
Or beta5.24
%95 Ci[2.50-10.99]
PlatformIllumina [2421290] (imputed)
CNVN
Mapped traitConotruncal heart malformations
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_2445
Study accessionGCST002438