SNP Detail For rs4840086
1.Mapping Information
Human SNP ID rs4840086
Human chromosome chr6
Human SNP position 99760562
Pig chromosome chr1
Pig SNP position 75307525
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
Region6q16.2
Chromosome idchr6
Chromosome position99760562
Reported geneMCHR2, PRDM13
Mapped genePRDM13 - MCHR2
Upstream gene id59336
Downstream gene id84539
SNP gene ids
Upstream gene distance144984
Downstream gene distance159348
SNP risk allelers4840086-G
SNPsrs4840086
Merged0
SNP id current4840086
Contextintergenic_variant
Intergenic1
Allele frequency0.42
P value0.00000002
Pvalue mlog7.69897000433601
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
Region6q16.2
Chromosome idchr6
Chromosome position99760562
Reported geneSIM1, MCHR2
Mapped genePRDM13 - MCHR2
Upstream gene id59336
Downstream gene id84539
SNP gene ids
Upstream gene distance144984
Downstream gene distance159348
SNP risk allelers4840086-A
SNPsrs4840086
Merged0
SNP id current4840086
Contextintergenic_variant
Intergenic1
Allele frequency0.58
P value0.00000000000009
Pvalue mlog13.0457574905606
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