Human SNP ID | rs16991615 |
---|---|
Human chromosome | chr20 |
Human SNP position | 5967581 |
Pig chromosome | chr17 |
Pig SNP position | 15920111 |
PubMed ID | 19448621 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19448621 |
Study | Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. |
Disease/Trait | Menarche and menopause (age at onset) |
Initial sample | 17,438 European ancestry female individuals |
Replication sample | NA |
Region | 20p12.3 |
Chromosome id | chr20 |
Chromosome position | 5967581 |
Reported gene | MCM8, TRMT6 |
Mapped gene | MCM8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 84515 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16991615-A |
SNPs | rs16991615 |
Merged | 0 |
SNP id current | 16991615 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.06 |
P value | 1E-21 |
Pvalue mlog | 21 |
P value text | (age at natural menopause) |
Or beta | 1.07 |
%95 Ci | [0.85-1.29] years increase |
Platform | Illumina [317759] |
CNV | N |
Mapped trait | age at menopause |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004704 |
Study accession | GCST000403 |
PubMed ID | 22267201 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22267201 |
Study | Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. |
Disease/Trait | Menopause (age at onset) |
Initial sample | 38,968 European ancestry female individuals |
Replication sample | Up to 14,435 European ancestry female individuals |
Region | 20p12.3 |
Chromosome id | chr20 |
Chromosome position | 5967581 |
Reported gene | MCM8 |
Mapped gene | MCM8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 84515 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16991615-A |
SNPs | rs16991615 |
Merged | 0 |
SNP id current | 16991615 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.069 |
P value | 1E-73 |
Pvalue mlog | 73 |
P value text | |
Or beta | 0.948 |
%95 Ci | [0.85-1.05] years increase |
Platform | Affymetrix, Illumina [2551160] (imputed) |
CNV | N |
Mapped trait | age at menopause |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004704 |
Study accession | GCST001381 |
PubMed ID | 23307926 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23307926 |
Study | A genome-wide association study of early menopause and the combined impact of identified variants. |
Disease/Trait | Menopause (age at onset) |
Initial sample | 3,493 European ancestry cases, 13,598 European ancestry controls |
Replication sample | 3,412 European ancestry cases, 4,928 European ancestry controls |
Region | 20p12.3 |
Chromosome id | chr20 |
Chromosome position | 5967581 |
Reported gene | NR |
Mapped gene | MCM8 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 84515 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16991615-A |
SNPs | rs16991615 |
Merged | 0 |
SNP id current | 16991615 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.0785 |
P value | 0.000000000005 |
Pvalue mlog | 11.3010299956639 |
P value text | |
Or beta | 0.4608 |
%95 Ci | [0.33-0.59] years decrease |
Platform | NR [NR] |
CNV | N |
Mapped trait | age at menopause |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004704 |
Study accession | GCST001810 |