SNP Detail For rs2016266
1.Mapping Information
Human SNP ID rs2016266
Human chromosome chr12
Human SNP position 53334171
Pig chromosome chr5
Pig SNP position 18985780
2.Annotation Information
PubMed ID19801982
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19801982
StudyTwenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
Disease/TraitBone mineral density (spine)
Initial sample19,195 European ancestry individuals
Replication sampleNA
Region12q13.13
Chromosome idchr12
Chromosome position53334171
Reported geneSP7
Mapped geneSP7
Upstream gene id
Downstream gene id
SNP gene ids121340
Upstream gene distance
Downstream gene distance
SNP risk allelers2016266-G
SNPsrs2016266
Merged0
SNP id current2016266
Contextintron_variant
Intergenic0
Allele frequency0.32
P value0.00000001
Pvalue mlog8
P value text
Or beta0.07
%95 Ci[0.05-0.09] s.d. increase
PlatformAffymetrix, Illumina [2543686] (imputed)
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST000494
PubMed ID22504420
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22504420
StudyGenome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Disease/TraitBone mineral density
Initial sampleUp to 32,961 European and East Asian ancestry individuals
Replication sampleUp to 50,933 European and East Asian ancestry individuals
Region12q13.13
Chromosome idchr12
Chromosome position53334171
Reported geneSP7
Mapped geneSP7
Upstream gene id
Downstream gene id
SNP gene ids121340
Upstream gene distance
Downstream gene distance
SNP risk allelers2016266-A
SNPsrs2016266
Merged0
SNP id current2016266
Contextintron_variant
Intergenic0
Allele frequency0.68
P value3E-20
Pvalue mlog19.5228787452803
P value text(LSBMD)
Or beta0.05
%95 Ci[NR] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST001482