SNP Detail For rs11712066
1.Mapping Information
Human SNP ID rs11712066
Human chromosome chr3
Human SNP position 152112520
Pig chromosome chr13
Pig SNP position 100461265
2.Annotation Information
PubMed ID22306654
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22306654
StudyCommon variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
Disease/TraitInfantile hypertrophic pyloric stenosis
Initial sample1,001 European ancestry cases, 2,401 European ancestry controls
Replication sample796 European ancestry cases, 876 European ancestry controls
Region3q25.1
Chromosome idchr3
Chromosome position152112520
Reported geneMBNL1
Mapped geneLOC105374161
Upstream gene id
Downstream gene id
SNP gene ids105374161
Upstream gene distance
Downstream gene distance
SNP risk allelers11712066-A
SNPsrs11712066
Merged0
SNP id current11712066
Contextintergenic_variant
Intergenic0
Allele frequency0.75
P value0.00000000000000002
Pvalue mlog16.698970004336
P value text
Or beta1.61
%95 Ci[1.44-1.79]
PlatformIllumina [523420]
CNVN
Mapped traitinfantile hypertrophic pyloric stenosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004707
Study accessionGCST001399
PubMed ID23989729
JournalJAMA
Linkwww.ncbi.nlm.nih.gov/pubmed/23989729
StudyPlasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.
Disease/TraitInfantile hypertrophic pyloric stenosis
Initial sample1,001 European ancestry cases, 2,371 European ancestry controls
Replication sample925 European ancestry cases, 1,621 European ancestry controls, 738 cases, 697 controls
Region3q25.1
Chromosome idchr3
Chromosome position152112520
Reported geneintergenic
Mapped geneLOC105374161
Upstream gene id
Downstream gene id
SNP gene ids105374161
Upstream gene distance
Downstream gene distance
SNP risk allelers11712066-A
SNPsrs11712066
Merged0
SNP id current11712066
Contextintergenic_variant
Intergenic0
Allele frequency0.7484
P value3E-21
Pvalue mlog20.5228787452803
P value text
Or beta1.55
%95 Ci[1.42-1.70]
PlatformIllumina [9737928] (imputed)
CNVN
Mapped traitinfantile hypertrophic pyloric stenosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004707
Study accessionGCST002145