SNP Detail For rs12946942
1.Mapping Information
Human SNP ID rs12946942
Human chromosome chr17
Human SNP position 71240857
Pig chromosome chr12
Pig SNP position 9725763
2.Annotation Information
PubMed ID24023777
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/24023777
StudyIdentification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
Disease/TraitAdolescent idiopathic scoliosis (severe)
Initial sample554 Japanese ancestry cases, 1,474 Japanese ancestry controls
Replication sample839 East Asian ancestry cases, 10,149 East Asian ancestry controls
Region17q24.3
Chromosome idchr17
Chromosome position71240857
Reported geneSOX9, KCNJ2
Mapped geneCASC17 - LOC124685
Upstream gene id101928165
Downstream gene id124685
SNP gene ids
Upstream gene distance38678
Downstream gene distance380081
SNP risk allelers12946942-T
SNPsrs12946942
Merged0
SNP id current12946942
Contextintergenic_variant
Intergenic1
Allele frequency0.213
P value0.000000000006
Pvalue mlog11.2218487496163
P value text
Or beta2.21
%95 Ci[1.76-2.77]
PlatformIllumina [455121]
CNVN
Mapped traitadolescent idiopathic scoliosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005423
Study accessionGCST002169