SNP Detail For rs484959
1.Mapping Information
Human SNP ID rs484959
Human chromosome chr1
Human SNP position 109823461
Pig chromosome chr4
Pig SNP position 120901254
2.Annotation Information
PubMed ID20436471
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20436471
StudyGenome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget__s disease of bone.
Disease/TraitPaget__s disease
Initial sample692 European ancestry cases, 1,001 European ancestry controls
Replication sample256 European ancestry cases, 488 European ancestry controls
Region1p13.3
Chromosome idchr1
Chromosome position109823461
Reported geneCSF1
Mapped geneEPS8L3 - CSF1
Upstream gene id79574
Downstream gene id1435
SNP gene ids
Upstream gene distance59439
Downstream gene distance87150
SNP risk allelers484959-?
SNPsrs484959
Merged0
SNP id current484959
Contextupstream_gene_variant
Intergenic1
Allele frequency0.51
P value5E-24
Pvalue mlog23.3010299956639
P value text
Or beta1.82
%95 Ci[1.61-2.04]
PlatformIllumina [294663]
CNVN
Mapped traitosteitis deformans
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004261
Study accessionGCST000672