SNP Detail For rs1497062
1.Mapping Information
Human SNP ID rs1497062
Human chromosome chr13
Human SNP position 82007307
Pig chromosome chr11
Pig SNP position 58394394
2.Annotation Information
PubMed ID26194203
JournalG3 (Bethesda)
Linkwww.ncbi.nlm.nih.gov/pubmed/26194203
StudyGenome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
Disease/TraitAtrioventricular septal defects in Down syndrome
Initial sample210 European ancestry cases with atrioventricular septal defects, 242 European ancestry cases with normal hearts
Replication sampleNA
Region13q31.1
Chromosome idchr13
Chromosome position82007307
Reported geneNR
Mapped geneLOC105370284 - LOC105370285
Upstream gene id105370284
Downstream gene id105370285
SNP gene ids
Upstream gene distance158557
Downstream gene distance342896
SNP risk allelers1497062-?
SNPsrs1497062
Merged
SNP id current1497062
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000005
Pvalue mlog5.30102999566398
P value text
Or beta1.946
%95 Ci[1.46-2.59]
PlatformAffymetrix [606195]
CNVN
Mapped traitAtrioventricular canal defect, Down syndrome
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0006695, http://www.ebi.ac.uk/efo/EFO_0001064
Study accessionGCST003047