SNP Detail For rs1208285
1.Mapping Information
Human SNP ID rs1208285
Human chromosome chr6
Human SNP position 133837662
Pig chromosome chr1
Pig SNP position 33528101
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
Region6q23.2
Chromosome idchr6
Chromosome position133837662
Reported geneNR
Mapped geneTARID, LINC01312
Upstream gene id
Downstream gene id
SNP gene ids100507308, 154089
Upstream gene distance
Downstream gene distance
SNP risk allelers1208285-C
SNPsrs1208285
Merged0
SNP id current1208285
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequency0.39
P value0.0000006
Pvalue mlog6.22184874961635
P value text
Or beta1.25
%95 Ci[1.14-1.36]
PlatformIllumina [523420]
CNVN
Mapped traitinfantile hypertrophic pyloric stenosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004707
Study accessionGCST001399