SNP Detail For rs12461110
1.Mapping Information
Human SNP ID rs12461110
Human chromosome chr19
Human SNP position 55809297
Pig chromosome chr6
Pig SNP position 55299350
2.Annotation Information
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
Region19q13.43
Chromosome idchr19
Chromosome position55809297
Reported geneNLRP11
Mapped geneNLRP11
Upstream gene id
Downstream gene id
SNP gene ids204801
Upstream gene distance
Downstream gene distance
SNP risk allelers12461110-A
SNPsrs12461110
Merged0
SNP id current12461110
Contextmissense_variant
Intergenic0
Allele frequency0.356
P value0.0000000009
Pvalue mlog9.04575749056067
P value text
Or beta0.158
%95 Ci[0.11-0.21] years decrease
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
Region19q13.43
Chromosome idchr19
Chromosome position55809297
Reported geneNR
Mapped geneNLRP11
Upstream gene id
Downstream gene id
SNP gene ids204801
Upstream gene distance
Downstream gene distance
SNP risk allelers12461110-A
SNPsrs12461110
Merged0
SNP id current12461110
Contextmissense_variant
Intergenic0
Allele frequency0.3594
P value0.00000009
Pvalue mlog7.04575749056067
P value text
Or beta0.1553
%95 Ci[0.098-0.212] years increase
PlatformNR [NR]
CNVN
Mapped traitage at menopause
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004704
Study accessionGCST001810