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SNP Detail For rs12504628
1.Mapping Information
| Human SNP ID | rs12504628 |
|---|---|
| Human chromosome | chr4 |
| Human SNP position | 144515172 |
| Pig chromosome | chr8 |
| Pig SNP position | 89052517 |
2.Annotation Information
| PubMed ID | 20010834 |
|---|---|
| Journal | Nat Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/20010834 |
| Study | Genome-wide association study identifies five loci associated with lung function. |
| Disease/Trait | Pulmonary function |
| Initial sample | 20,288 European ancestry individuals |
| Replication sample | up to 54,276 European ancestry individuals |
| Region | 4q31.21 |
| Chromosome id | chr4 |
| Chromosome position | 144515172 |
| Reported gene | HHIP |
| Mapped gene | LOC105377462 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 105377462 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs12504628-T |
| SNPs | rs12504628 |
| Merged | 0 |
| SNP id current | 12504628 |
| Context | intergenic_variant |
| Intergenic | 0 |
| Allele frequency | 0.56 |
| P value | 0.0000000000006 |
| Pvalue mlog | 12.2218487496163 |
| P value text | (FEV1/FVC) |
| Or beta | 0.077 |
| %95 Ci | [0.055-0.099] s.d. decrease |
| Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
| CNV | N |
| Mapped trait | pulmonary function measurement, FEV/FEC ratio |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003892, http://www.ebi.ac.uk/efo/EFO_0004713 |
| Study accession | GCST000544 |
| PubMed ID | 26634245 |
| Journal | BMC Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26634245 |
| Study | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. |
| Disease/Trait | Post bronchodilator FEV1 |
| Initial sample | 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals |
| Replication sample | NA |
| Region | 4q31.21 |
| Chromosome id | chr4 |
| Chromosome position | 144515172 |
| Reported gene | Intergenic |
| Mapped gene | LOC105377462 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 105377462 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs12504628-T |
| SNPs | rs12504628 |
| Merged | 0 |
| SNP id current | 12504628 |
| Context | intergenic_variant |
| Intergenic | 0 |
| Allele frequency | 0.639 |
| P value | 0.00000000000009 |
| Pvalue mlog | 13.0457574905606 |
| P value text | |
| Or beta | 0.071 |
| %95 Ci | NR unit decrease |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | forced expiratory volume, response to bronchodilator |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004314, http://purl.obolibrary.org/obo/GO_0097366 |
| Study accession | GCST003262 |
| PubMed ID | 26634245 |
| Journal | BMC Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26634245 |
| Study | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. |
| Disease/Trait | Post bronchodilator FEV1/FVC ratio in COPD |
| Initial sample | 5,439 European ancestry current and former smoker cases, 821 African American current and former smoker cases |
| Replication sample | NA |
| Region | 4q31.21 |
| Chromosome id | chr4 |
| Chromosome position | 144515172 |
| Reported gene | Intergenic |
| Mapped gene | LOC105377462 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 105377462 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs12504628-T |
| SNPs | rs12504628 |
| Merged | 0 |
| SNP id current | 12504628 |
| Context | intergenic_variant |
| Intergenic | 0 |
| Allele frequency | 0.614 |
| P value | 0.000001 |
| Pvalue mlog | 6 |
| P value text | |
| Or beta | 0.012 |
| %95 Ci | NR unit decrease |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | response to bronchodilator, chronic obstructive pulmonary disease, FEV/FEC ratio |
| Mapped trait URI | http://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0004713 |
| Study accession | GCST003265 |
| PubMed ID | 26634245 |
| Journal | BMC Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/26634245 |
| Study | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. |
| Disease/Trait | Post bronchodilator FEV1/FVC ratio |
| Initial sample | 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals |
| Replication sample | NA |
| Region | 4q31.21 |
| Chromosome id | chr4 |
| Chromosome position | 144515172 |
| Reported gene | Intergenic |
| Mapped gene | LOC105377462 |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 105377462 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs12504628-T |
| SNPs | rs12504628 |
| Merged | 0 |
| SNP id current | 12504628 |
| Context | intergenic_variant |
| Intergenic | 0 |
| Allele frequency | 0.641 |
| P value | 0.000000000000000009 |
| Pvalue mlog | 17.0457574905606 |
| P value text | |
| Or beta | 0.017 |
| %95 Ci | unit decrease |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | response to bronchodilator, FEV/FEC ratio |
| Mapped trait URI | http://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0004713 |
| Study accession | GCST003264 |
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