SNP Detail For rs16991615
1.Mapping Information
Human SNP ID rs16991615
Human chromosome chr20
Human SNP position 5967581
Pig chromosome chr17
Pig SNP position 15920111
2.Annotation Information
PubMed ID19448621
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19448621
StudyGenome-wide association studies identify loci associated with age at menarche and age at natural menopause.
Disease/TraitMenarche and menopause (age at onset)
Initial sample17,438 European ancestry female individuals
Replication sampleNA
Region20p12.3
Chromosome idchr20
Chromosome position5967581
Reported geneMCM8, TRMT6
Mapped geneMCM8
Upstream gene id
Downstream gene id
SNP gene ids84515
Upstream gene distance
Downstream gene distance
SNP risk allelers16991615-A
SNPsrs16991615
Merged0
SNP id current16991615
Contextmissense_variant
Intergenic0
Allele frequency0.06
P value1E-21
Pvalue mlog21
P value text(age at natural menopause)
Or beta1.07
%95 Ci[0.85-1.29] years increase
PlatformIllumina [317759]
CNVN
Mapped traitage at menopause
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004704
Study accessionGCST000403
PubMed ID22267201
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22267201
StudyMeta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Disease/TraitMenopause (age at onset)
Initial sample38,968 European ancestry female individuals
Replication sampleUp to 14,435 European ancestry female individuals
Region20p12.3
Chromosome idchr20
Chromosome position5967581
Reported geneMCM8
Mapped geneMCM8
Upstream gene id
Downstream gene id
SNP gene ids84515
Upstream gene distance
Downstream gene distance
SNP risk allelers16991615-A
SNPsrs16991615
Merged0
SNP id current16991615
Contextmissense_variant
Intergenic0
Allele frequency0.069
P value1E-73
Pvalue mlog73
P value text
Or beta0.948
%95 Ci[0.85-1.05] years increase
PlatformAffymetrix, Illumina [2551160] (imputed)
CNVN
Mapped traitage at menopause
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004704
Study accessionGCST001381
PubMed ID23307926
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23307926
StudyA genome-wide association study of early menopause and the combined impact of identified variants.
Disease/TraitMenopause (age at onset)
Initial sample3,493 European ancestry cases, 13,598 European ancestry controls
Replication sample3,412 European ancestry cases, 4,928 European ancestry controls
Region20p12.3
Chromosome idchr20
Chromosome position5967581
Reported geneNR
Mapped geneMCM8
Upstream gene id
Downstream gene id
SNP gene ids84515
Upstream gene distance
Downstream gene distance
SNP risk allelers16991615-A
SNPsrs16991615
Merged0
SNP id current16991615
Contextmissense_variant
Intergenic0
Allele frequency0.0785
P value0.000000000005
Pvalue mlog11.3010299956639
P value text
Or beta0.4608
%95 Ci[0.33-0.59] years decrease
PlatformNR [NR]
CNVN
Mapped traitage at menopause
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004704
Study accessionGCST001810