Human SNP ID | rs13118928 |
---|---|
Human chromosome | chr4 |
Human SNP position | 144565237 |
Pig chromosome | chr8 |
Pig SNP position | 89011781 |
PubMed ID | 20173748 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20173748 |
Study | Variants in FAM13A are associated with chronic obstructive pulmonary disease. |
Disease/Trait | Chronic obstructive pulmonary disease |
Initial sample | 2,940 European ancestry cases, 1,380 European ancestry controls |
Replication sample | 502 European ancestry cases, 504 European ancestry controls, 1,110 cases, 2,698 controls |
Region | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144565237 |
Reported gene | HHIP |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2732 |
Downstream gene distance | 7001 |
SNP risk allele | rs13118928-? |
SNPs | rs13118928 |
Merged | 0 |
SNP id current | 13118928 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.4 |
P value | 0.0000005 |
Pvalue mlog | 6.30102999566398 |
P value text | |
Or beta | 1.25 |
%95 Ci | [1.14-1.37] |
Platform | Illumina [499578] |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341 |
Study accession | GCST000603 |
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 | 144565237 |
Reported gene | Intergenic |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2732 |
Downstream gene distance | 7001 |
SNP risk allele | rs13118928-A |
SNPs | rs13118928 |
Merged | 0 |
SNP id current | 13118928 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.586 |
P value | 0.000000000001 |
Pvalue mlog | 12 |
P value text | |
Or beta | 0.067 |
%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 | 144565237 |
Reported gene | Intergenic |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2732 |
Downstream gene distance | 7001 |
SNP risk allele | rs13118928-A |
SNPs | rs13118928 |
Merged | 0 |
SNP id current | 13118928 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.502 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | |
Or beta | 0.011 |
%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 | 144565237 |
Reported gene | Intergenic |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2732 |
Downstream gene distance | 7001 |
SNP risk allele | rs13118928-A |
SNPs | rs13118928 |
Merged | 0 |
SNP id current | 13118928 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.587 |
P value | 0.0000000000000003 |
Pvalue mlog | 15.5228787452803 |
P value text | |
Or beta | 0.016 |
%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 |