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SNP Detail For rs2450083
1.Mapping Information
| Human SNP ID | rs2450083 |
|---|---|
| Human chromosome | chr8 |
| Human SNP position | 119051303 |
| Pig chromosome | chr4 |
| Pig SNP position | 20831264 |
2.Annotation Information
| 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, skull) |
| Initial sample | 7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children |
| Replication sample | NA |
| Region | 8q24.12 |
| Chromosome id | chr8 |
| Chromosome position | 119051303 |
| Reported gene | COLEC10, TNFRSF11B |
| Mapped gene | COLEC10 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10584 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2450083-T |
| SNPs | rs2450083 |
| Merged | 0 |
| SNP id current | 2450083 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.47 |
| P value | 0.00000000002 |
| Pvalue mlog | 10.698970004336 |
| P value text | |
| Or beta | 0.102 |
| %95 Ci | [0.073-0.131] 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 | GCST002493 |
| 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, skull) |
| Initial sample | 7,976 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children |
| Replication sample | NA |
| Region | 8q24.12 |
| Chromosome id | chr8 |
| Chromosome position | 119051303 |
| Reported gene | COLEC10, TNFRSF11B |
| Mapped gene | COLEC10 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 10584 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs2450083-T |
| SNPs | rs2450083 |
| Merged | 0 |
| SNP id current | 2450083 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.00000003 |
| Pvalue mlog | 7.52287874528033 |
| P value text | (EA) |
| Or beta | 0.0959 |
| %95 Ci | [0.062-0.13] 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 | GCST002493 |
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and Xi'an University of Technology ©2014-2017 All Rights Reserved.
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