SNP Detail For rs6532023
1.Mapping Information
Human SNP ID rs6532023
Human chromosome chr4
Human SNP position 87852697
Pig chromosome chr8
Pig SNP position 140406171
2.Annotation Information
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
Region4q22.1
Chromosome idchr4
Chromosome position87852697
Reported geneMEPE
Mapped geneMEPE - HSP90AB3P
Upstream gene id56955
Downstream gene id3327
SNP gene ids
Upstream gene distance5880
Downstream gene distance39051
SNP risk allelers6532023-T
SNPsrs6532023
Merged0
SNP id current6532023
Contextintergenic_variant
Intergenic1
Allele frequency0.34
P value1E-27
Pvalue mlog27
P value text(LSBMD)
Or beta0.06
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST001482
PubMed ID24945404
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24945404
StudyPhenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
Disease/TraitBone mineral density (paediatric, total body less head)
Initial sample8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children
Replication sampleNA
Region4q22.1
Chromosome idchr4
Chromosome position87852697
Reported geneMEPE
Mapped geneMEPE - HSP90AB3P
Upstream gene id56955
Downstream gene id3327
SNP gene ids
Upstream gene distance5880
Downstream gene distance39051
SNP risk allelers6532023-T
SNPsrs6532023
Merged0
SNP id current6532023
Contextintergenic_variant
Intergenic1
Allele frequency0.34
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta0.07
%95 Ci[NR] unit increase
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST002494