Human SNP ID | rs1980057 |
---|---|
Human chromosome | chr4 |
Human SNP position | 144564586 |
Pig chromosome | chr8 |
Pig SNP position | 89012657 |
PubMed ID | 20010835 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20010835 |
Study | Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. |
Disease/Trait | Pulmonary function |
Initial sample | 20,890 European ancestry individuals |
Replication sample | 16,178 European ancestry individuals |
Region | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144564586 |
Reported gene | HHIP |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2081 |
Downstream gene distance | 7652 |
SNP risk allele | rs1980057-T |
SNPs | rs1980057 |
Merged | 0 |
SNP id current | 1980057 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.4 |
P value | 3E-20 |
Pvalue mlog | 19.5228787452803 |
P value text | (FEV1/FVC) |
Or beta | 0.52 |
%95 Ci | [NR] % increase |
Platform | Affymetrix, Illumina [2534500] (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 | GCST000542 |
PubMed ID | 23284291 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23284291 |
Study | Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. |
Disease/Trait | Pulmonary function (interaction) |
Initial sample | 50,047 European ancestry individuals |
Replication sample | NA |
Region | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144564586 |
Reported gene | HHIP |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2081 |
Downstream gene distance | 7652 |
SNP risk allele | rs1980057-? |
SNPs | rs1980057 |
Merged | 0 |
SNP id current | 1980057 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000000000000000005 |
Pvalue mlog | 17.3010299956639 |
P value text | (FEV1/FVC, Ever-smoking) |
Or beta | |
%95 Ci | |
Platform | NR [~ 2500000] (imputed) |
CNV | N |
Mapped trait | FEV/FEC ratio |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004713 |
Study accession | GCST001784 |
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 | 144564586 |
Reported gene | Intergenic |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2081 |
Downstream gene distance | 7652 |
SNP risk allele | rs1980057-T |
SNPs | rs1980057 |
Merged | 0 |
SNP id current | 1980057 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.58 |
P value | 0.0000000000001 |
Pvalue mlog | 13 |
P value text | |
Or beta | 0.071 |
%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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144564586 |
Reported gene | Intergenic |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2081 |
Downstream gene distance | 7652 |
SNP risk allele | rs1980057-T |
SNPs | rs1980057 |
Merged | 0 |
SNP id current | 1980057 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.503 |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | |
Or beta | 0.011 |
%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/FVC ratio |
Initial sample | 6,659 European ancestry current and former smoker individuals |
Replication sample | NA |
Region | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144564586 |
Reported gene | LOC646576, HHIP |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2081 |
Downstream gene distance | 7652 |
SNP risk allele | rs1980057-? |
SNPs | rs1980057 |
Merged | 0 |
SNP id current | 1980057 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.00000002 |
Pvalue mlog | 7.69897000433601 |
P value text | |
Or beta | 0.0146 |
%95 Ci | unit increase |
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 | 4q31.21 |
Chromosome id | chr4 |
Chromosome position | 144564586 |
Reported gene | Intergenic |
Mapped gene | LOC105377462 - KRT18P51 |
Upstream gene id | 105377462 |
Downstream gene id | 391703 |
SNP gene ids | |
Upstream gene distance | 2081 |
Downstream gene distance | 7652 |
SNP risk allele | rs1980057-T |
SNPs | rs1980057 |
Merged | 0 |
SNP id current | 1980057 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.581 |
P value | 0.00000000000000001 |
Pvalue mlog | 17 |
P value text | |
Or beta | 0.017 |
%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 |