Human SNP ID | rs379123 |
---|---|
Human chromosome | chr17 |
Human SNP position | 32564796 |
Pig chromosome | chr12 |
Pig SNP position | 44171890 |
PubMed ID | 25006744 |
---|---|
Journal | Am J Respir Crit Care Med |
Link | www.ncbi.nlm.nih.gov/pubmed/25006744 |
Study | Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. |
Disease/Trait | Local histogram emphysema pattern |
Initial sample | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases |
Replication sample | NA |
Region | 17q11.2 |
Chromosome id | chr17 |
Chromosome position | 32564796 |
Reported gene | MYO1D |
Mapped gene | MYO1D |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4642 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs379123-T |
SNPs | rs379123 |
Merged | 0 |
SNP id current | 379123 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.59 |
P value | 0.00000002 |
Pvalue mlog | 7.69897000433601 |
P value text | (Severe Centrilobular) |
Or beta | 0.005 |
%95 Ci | [0.0030-0.0070] unit decrease |
Platform | Illumina [6942916] (imputed) |
CNV | N |
Mapped trait | emphysema pattern measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005850 |
Study accession | GCST002525 |
PubMed ID | 25006744 |
Journal | Am J Respir Crit Care Med |
Link | www.ncbi.nlm.nih.gov/pubmed/25006744 |
Study | Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. |
Disease/Trait | Local histogram emphysema pattern |
Initial sample | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases |
Replication sample | NA |
Region | 17q11.2 |
Chromosome id | chr17 |
Chromosome position | 32564796 |
Reported gene | MYO1D |
Mapped gene | MYO1D |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4642 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs379123-T |
SNPs | rs379123 |
Merged | 0 |
SNP id current | 379123 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.59 |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | (Severe Centrilobular, EA) |
Or beta | 0.005 |
%95 Ci | [0.0030-0.0070] unit decrease |
Platform | Illumina [6942916] (imputed) |
CNV | N |
Mapped trait | emphysema pattern measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005850 |
Study accession | GCST002525 |