SNP Detail For rs11190870
1.Mapping Information
Human SNP ID rs11190870
Human chromosome chr10
Human SNP position 101219450
Pig chromosome chr14
Pig SNP position 122020312
2.Annotation Information
PubMed ID22019779
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22019779
StudyA genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.
Disease/TraitScoliosis
Initial sample1,033 Japanese ancestry adolescent female cases, 1,473 Japanese ancestry female controls
Replication sample326 Japanese ancestry adolescent female cases, 9,823 Japanese ancestry female controls
Region10q24.32
Chromosome idchr10
Chromosome position101219450
Reported geneLBX1
Mapped geneLINC01514 - LBX1
Upstream gene id101927396
Downstream gene id10660
SNP gene ids
Upstream gene distance25303
Downstream gene distance7526
SNP risk allelers11190870-?
SNPsrs11190870
Merged0
SNP id current11190870
Contextintergenic_variant
Intergenic1
Allele frequency0.57
P value1E-19
Pvalue mlog19
P value text
Or beta1.56
%95 Ci[1.41-1.71]
PlatformIllumina [455121]
CNVN
Mapped traitscoliosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004273
Study accessionGCST001293
PubMed ID26211971
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26211971
StudyA Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
Disease/TraitAdolescent idiopathic scoliosis
Initial sample2,109 Japanese ancestry cases, 11,140 Japanese ancestry controls
Replication sample2,223 East Asian ancestry cases, 4,724 East Asian ancestry controls
Region10q24.32
Chromosome idchr10
Chromosome position101219450
Reported geneLBX1
Mapped geneLINC01514 - LBX1
Upstream gene id101927396
Downstream gene id10660
SNP gene ids
Upstream gene distance25303
Downstream gene distance7526
SNP risk allelers11190870-T
SNPsrs11190870
Merged0
SNP id current11190870
Contextintergenic_variant
Intergenic1
Allele frequency0.557
P value5E-39
Pvalue mlog38.3010299956639
P value text
Or beta1.61
%95 Ci[1.50-1.73]
PlatformIllumina [4420789] (imputed)
CNVN
Mapped traitadolescent idiopathic scoliosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005423
Study accessionGCST003052