SNP Detail For rs12472911
1.Mapping Information
Human SNP ID rs12472911
Human chromosome chr2
Human SNP position 141470940
Pig chromosome chr15
Pig SNP position 11227325
2.Annotation Information
PubMed ID21102462
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21102462
StudyThirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Disease/TraitMenarche (age at onset)
Initial sample86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals
Replication sampleUp to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals
Region2q22.1
Chromosome idchr2
Chromosome position141470940
Reported geneLRP1B
Mapped geneLRP1B, LOC105373649
Upstream gene id
Downstream gene id
SNP gene ids53353, 105373649
Upstream gene distance
Downstream gene distance
SNP risk allelers12472911-C
SNPsrs12472911
Merged0
SNP id current12472911
Contextintron_variant
Intergenic0
Allele frequency0.2
P value0.0000002
Pvalue mlog6.69897000433601
P value text
Or beta2.5
%95 Ci[1.52-3.48] week increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitage at menarche
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004703
Study accessionGCST000880
PubMed ID25231870
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25231870
StudyParent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Disease/TraitMenarche (age at onset)
Initial sampleUp to 182,413 European ancestry females
Replication sampleNA
Region2q22.1
Chromosome idchr2
Chromosome position141470940
Reported geneLRP1B
Mapped geneLRP1B, LOC105373649
Upstream gene id
Downstream gene id
SNP gene ids53353, 105373649
Upstream gene distance
Downstream gene distance
SNP risk allelers12472911-C
SNPsrs12472911
Merged0
SNP id current12472911
Contextintron_variant
Intergenic0
Allele frequency0.2
P value0.0000000007
Pvalue mlog9.15490195998574
P value text
Or beta0.04
%95 Ci[0.028-0.052] unit increase
PlatformAffymetrix, Illumina [2441815] (imputed)
CNVN
Mapped traitage at menarche
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004703
Study accessionGCST002541