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SNP Detail For rs931794
1.Mapping Information
| Human SNP ID | rs931794 |
|---|---|
| Human chromosome | chr15 |
| Human SNP position | 78533838 |
| Pig chromosome | chr7 |
| Pig SNP position | 52942994 |
2.Annotation Information
| 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 | 15q25.1 |
| Chromosome id | chr15 |
| Chromosome position | 78533838 |
| Reported gene | AGPHD1 |
| Mapped gene | HYKK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 123688 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs931794-A |
| SNPs | rs931794 |
| Merged | 0 |
| SNP id current | 931794 |
| Context | 3_prime_UTR_variant |
| Intergenic | 0 |
| Allele frequency | 0.407 |
| P value | 0.00000000002 |
| Pvalue mlog | 10.698970004336 |
| P value text | |
| Or beta | 0.061 |
| %95 Ci | NR unit increase |
| 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 | 15q25.1 |
| Chromosome id | chr15 |
| Chromosome position | 78533838 |
| Reported gene | AGPHD1 |
| Mapped gene | HYKK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 123688 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs931794-A |
| SNPs | rs931794 |
| Merged | 0 |
| SNP id current | 931794 |
| Context | 3_prime_UTR_variant |
| Intergenic | 0 |
| Allele frequency | 0.497 |
| P value | 0.0000007 |
| Pvalue mlog | 6.15490195998574 |
| P value text | |
| Or beta | 0.012 |
| %95 Ci | NR unit increase |
| 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 | Pre bronchodilator FEV1 |
| Initial sample | 6,659 European ancestry current and former smoker individuals |
| Replication sample | NA |
| Region | 15q25.1 |
| Chromosome id | chr15 |
| Chromosome position | 78533838 |
| Reported gene | AGPHD1 |
| Mapped gene | HYKK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 123688 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs931794NR |
| SNPs | rs931794 |
| Merged | 0 |
| SNP id current | 931794 |
| Context | 3_prime_UTR_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.000000004 |
| Pvalue mlog | 8.39794000867203 |
| P value text | |
| Or beta | 0.07793 |
| %95 Ci | unit decrease |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | forced expiratory volume |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004314 |
| Study accession | GCST003266 |
| 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 | Pre bronchodilator FEV1/FVC ratio |
| Initial sample | 6,659 European ancestry current and former smoker individuals |
| Replication sample | NA |
| Region | 15q25.1 |
| Chromosome id | chr15 |
| Chromosome position | 78533838 |
| Reported gene | AGPHD1 |
| Mapped gene | HYKK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 123688 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs931794-? |
| SNPs | rs931794 |
| Merged | 0 |
| SNP id current | 931794 |
| Context | 3_prime_UTR_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 0.0000000008 |
| Pvalue mlog | 9.09691001300805 |
| P value text | |
| Or beta | 0.01635 |
| %95 Ci | unit decrease |
| Platform | Illumina [NR] (imputed) |
| CNV | N |
| Mapped trait | FEV/FEC ratio |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004713 |
| Study accession | GCST003267 |
| 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 | 15q25.1 |
| Chromosome id | chr15 |
| Chromosome position | 78533838 |
| Reported gene | AGPHD1 |
| Mapped gene | HYKK |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 123688 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs931794-A |
| SNPs | rs931794 |
| Merged | 0 |
| SNP id current | 931794 |
| Context | 3_prime_UTR_variant |
| Intergenic | 0 |
| Allele frequency | 0.407 |
| P value | 0.00000000004 |
| Pvalue mlog | 10.397940008672 |
| P value text | |
| Or beta | 0.012 |
| %95 Ci | unit increase |
| 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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