SNP Detail For rs2517388
1.Mapping Information
Human SNP ID rs2517388
Human chromosome chr8
Human SNP position 38120214
Pig chromosome chr15
Pig SNP position 55537801
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
Region8p11.23
Chromosome idchr8
Chromosome position38120214
Reported geneASH2L
Mapped geneASH2L
Upstream gene id
Downstream gene id
SNP gene ids9070
Upstream gene distance
Downstream gene distance
SNP risk allelers2517388-G
SNPsrs2517388
Merged0
SNP id current2517388
Contextintron_variant
Intergenic0
Allele frequency0.174
P value0.000000000000009
Pvalue mlog14.0457574905606
P value text
Or beta0.262
%95 Ci[0.2-0.33] 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
Region8p11.23
Chromosome idchr8
Chromosome position38120214
Reported geneNR
Mapped geneASH2L
Upstream gene id
Downstream gene id
SNP gene ids9070
Upstream gene distance
Downstream gene distance
SNP risk allelers2517388-T
SNPsrs2517388
Merged0
SNP id current2517388
Contextintron_variant
Intergenic0
Allele frequency0.8234
P value0.0000001
Pvalue mlog7
P value text
Or beta0.2146
%95 Ci[0.13-0.29] years increase
PlatformNR [NR]
CNVN
Mapped traitage at menopause
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004704
Study accessionGCST001810