SNP Detail For rs2228638
1.Mapping Information
Human SNP ID rs2228638
Human chromosome chr10
Human SNP position 33186354
Pig chromosome chr10
Pig SNP position 61659989
2.Annotation Information
PubMed ID23297363
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23297363
StudyGenome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Disease/TraitTetralogy of Fallot
Initial sample835 European ancestry cases, 5,159 European ancestry controls
Replication sample798 European ancestry cases, 2,931 European ancestry controls
Region10p11.22
Chromosome idchr10
Chromosome position33186354
Reported geneNRP1
Mapped geneNRP1
Upstream gene id
Downstream gene id
SNP gene ids8829
Upstream gene distance
Downstream gene distance
SNP risk allelers2228638-A
SNPsrs2228638
Merged0
SNP id current2228638
Contextmissense_variant
Intergenic0
Allele frequency0.096
P value0.0000002
Pvalue mlog6.69897000433601
P value text
Or beta1.447
%95 Ci[1.239-1.69]
PlatformIllumina [516131]
CNVN
Mapped traittetralogy of fallot
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0001636
Study accessionGCST001807