SNP Detail For rs12700667
1.Mapping Information
Human SNP ID rs12700667
Human chromosome chr7
Human SNP position 25862019
Pig chromosome chr18
Pig SNP position 51300325
2.Annotation Information
PubMed ID21151130
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21151130
StudyGenome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Disease/TraitEndometriosis
Initial sample3,194 European ancestry cases, 7,060 European ancestry controls
Replication sample2,392 European ancestry cases, 2,271 European ancestry controls
Region7p15.2
Chromosome idchr7
Chromosome position25862019
Reported geneintergenic
Mapped geneLOC100506236
Upstream gene id
Downstream gene id
SNP gene ids100506236
Upstream gene distance
Downstream gene distance
SNP risk allelers12700667-A
SNPsrs12700667
Merged0
SNP id current12700667
Contextregulatory_region_variant
Intergenic0
Allele frequency0.74
P value0.000000001
Pvalue mlog9
P value text
Or beta1.2
%95 Ci[1.13-1.27]
PlatformIllumina [504723]
CNVN
Mapped traitendometriosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001065
Study accessionGCST000916
PubMed ID23104006
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23104006
StudyGenome-wide association meta-analysis identifies new endometriosis risk loci.
Disease/TraitEndometriosis
Initial sample3,181 European ancestry cases, 8,075 European ancestry controls, 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls
Replication sample1,044 Japanese ancestry, 4,017 Japanese ancestry controls
Region7p15.2
Chromosome idchr7
Chromosome position25862019
Reported geneintergenic
Mapped geneLOC100506236
Upstream gene id
Downstream gene id
SNP gene ids100506236
Upstream gene distance
Downstream gene distance
SNP risk allelers12700667-A
SNPsrs12700667
Merged0
SNP id current12700667
Contextregulatory_region_variant
Intergenic0
Allele frequency0.744
P value0.000000004
Pvalue mlog8.39794000867203
P value text
Or beta1.18
%95 Ci[1.11-1.25]
PlatformIllumina [407632]
CNVN
Mapped traitendometriosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001065
Study accessionGCST001720