Human SNP ID | rs6532023 |
---|---|
Human chromosome | chr4 |
Human SNP position | 87852697 |
Pig chromosome | chr8 |
Pig SNP position | 140406171 |
PubMed ID | 22504420 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22504420 |
Study | Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. |
Disease/Trait | Bone mineral density |
Initial sample | Up to 32,961 European and East Asian ancestry individuals |
Replication sample | Up to 50,933 European and East Asian ancestry individuals |
Region | 4q22.1 |
Chromosome id | chr4 |
Chromosome position | 87852697 |
Reported gene | MEPE |
Mapped gene | MEPE - HSP90AB3P |
Upstream gene id | 56955 |
Downstream gene id | 3327 |
SNP gene ids | |
Upstream gene distance | 5880 |
Downstream gene distance | 39051 |
SNP risk allele | rs6532023-T |
SNPs | rs6532023 |
Merged | 0 |
SNP id current | 6532023 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.34 |
P value | 1E-27 |
Pvalue mlog | 27 |
P value text | (LSBMD) |
Or beta | 0.06 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | bone density |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003923 |
Study accession | GCST001482 |
PubMed ID | 24945404 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24945404 |
Study | Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. |
Disease/Trait | Bone mineral density (paediatric, total body less head) |
Initial sample | 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children |
Replication sample | NA |
Region | 4q22.1 |
Chromosome id | chr4 |
Chromosome position | 87852697 |
Reported gene | MEPE |
Mapped gene | MEPE - HSP90AB3P |
Upstream gene id | 56955 |
Downstream gene id | 3327 |
SNP gene ids | |
Upstream gene distance | 5880 |
Downstream gene distance | 39051 |
SNP risk allele | rs6532023-T |
SNPs | rs6532023 |
Merged | 0 |
SNP id current | 6532023 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.34 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | |
Or beta | 0.07 |
%95 Ci | [NR] unit increase |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | bone density |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003923 |
Study accession | GCST002494 |