Human SNP ID | rs2517388 |
---|---|
Human chromosome | chr8 |
Human SNP position | 38120214 |
Pig chromosome | chr15 |
Pig SNP position | 55537801 |
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 | 8p11.23 |
Chromosome id | chr8 |
Chromosome position | 38120214 |
Reported gene | ASH2L |
Mapped gene | ASH2L |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9070 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2517388-G |
SNPs | rs2517388 |
Merged | 0 |
SNP id current | 2517388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.174 |
P value | 0.000000000000009 |
Pvalue mlog | 14.0457574905606 |
P value text | |
Or beta | 0.262 |
%95 Ci | [0.2-0.33] 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 | 8p11.23 |
Chromosome id | chr8 |
Chromosome position | 38120214 |
Reported gene | NR |
Mapped gene | ASH2L |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9070 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2517388-T |
SNPs | rs2517388 |
Merged | 0 |
SNP id current | 2517388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.8234 |
P value | 0.0000001 |
Pvalue mlog | 7 |
P value text | |
Or beta | 0.2146 |
%95 Ci | [0.13-0.29] years increase |
Platform | NR [NR] |
CNV | N |
Mapped trait | age at menopause |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004704 |
Study accession | GCST001810 |