SNP Detail For rs852069
1.Mapping Information
Human SNP ID rs852069
Human chromosome chr20
Human SNP position 17141948
Pig chromosome chr17
Pig SNP position 28922581
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
Region20p12.1
Chromosome idchr20
Chromosome position17141948
Reported genePCSK2
Mapped geneLOC105372544
Upstream gene id
Downstream gene id
SNP gene ids105372544
Upstream gene distance
Downstream gene distance
SNP risk allelers852069-A
SNPsrs852069
Merged0
SNP id current852069
Contextintergenic_variant
Intergenic0
Allele frequency0.37
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta2.1
%95 Ci[1.32-2.88] week decrease
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
Region20p12.1
Chromosome idchr20
Chromosome position17141948
Reported genePCSK2
Mapped geneLOC105372544
Upstream gene id
Downstream gene id
SNP gene ids105372544
Upstream gene distance
Downstream gene distance
SNP risk allelers852069-G
SNPsrs852069
Merged0
SNP id current852069
Contextintergenic_variant
Intergenic0
Allele frequency0.64
P value0.0000000000001
Pvalue mlog13
P value text
Or beta0.04
%95 Ci[0.03-0.05] unit increase
PlatformAffymetrix, Illumina [2441815] (imputed)
CNVN
Mapped traitage at menarche
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004703
Study accessionGCST002541