GWAS883768_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS883768_H (emphysema pattern measurement QTL GWAS883768 (human)) Homo sapiens

Symbol: GWAS883768_H
Name: emphysema pattern measurement QTL GWAS883768 (human)
RGD ID: 407234792
Trait: emphysema pattern measurement
LOD Score: Not Available
P Value: 2.0E-17
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381578,606,381 - 78,606,382RGD_MAPPER_PIPELINEGRCh38
GRCh371578,898,723 - 78,898,724RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS883768_HHumanemphysema pattern measurement  IAGPrs12914385405850206 GWAS_CATALOGPMID:27669027
References

References - curated
# Reference Title Reference Citation
1. RGD GWAS Catalog Import Pipeline RGD pipeline to import data from GWAS Catalog and create human variant and QTL records

Region

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
732613CHRNA3cholinergic receptor nicotinic alpha 3 subunit157859305278620996Human

Position Markers

Peak: (rs12914385)
Human AssemblyChrPosition (strand)Source
GRCh381578,606,381 - 78,606,382RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407024480GWAS673456_Hpulmonary function measurement, forced expiratory volume QTL GWAS673456 (human)0.0000005pulmonary function measurement, forced expiratory volumeforced expiratory volume (CMO:0000254)157860638178606382Human
407174918GWAS823894_Hlung carcinoma QTL GWAS823894 (human)6e-09lung carcinoma157860638178606382Human
406888646GWAS537622_Hforced expiratory volume QTL GWAS537622 (human)2e-10forced expiratory volumeforced expiratory volume (CMO:0000254)157860638178606382Human
406992074GWAS641050_Hcigarettes per day measurement QTL GWAS641050 (human)4e-10cigarettes per day measurement157860638178606382Human
406969866GWAS618842_Hforced expiratory volume, response to bronchodilator QTL GWAS618842 (human)1e-17forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)157860638178606382Human
407234792GWAS883768_Hemphysema pattern measurement QTL GWAS883768 (human)2e-17emphysema pattern measurement157860638178606382Human
407184340GWAS833316_Hchronic bronchitis QTL GWAS833316 (human)2e-16chronic bronchitis157860638178606382Human
407171313GWAS820289_HFEV/FVC ratio QTL GWAS820289 (human)1e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)157860638178606382Human
406961844GWAS610820_Hchronic obstructive pulmonary disease QTL GWAS610820 (human)6e-14chronic obstructive pulmonary disease157860638178606382Human
407102681GWAS751657_HFEV/FVC ratio, response to bronchodilator QTL GWAS751657 (human)6e-18FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)157860638178606382Human
406961851GWAS610827_Hchronic obstructive pulmonary disease QTL GWAS610827 (human)3e-16chronic obstructive pulmonary disease157860638178606382Human
406948667GWAS597643_Hchronic obstructive pulmonary disease, chronic bronchitis QTL GWAS597643 (human)0.000003chronic obstructive pulmonary disease, chronic bronchitis157860638178606382Human
406948669GWAS597645_Hchronic obstructive pulmonary disease, chronic bronchitis QTL GWAS597645 (human)2e-08carbon monoxide exhalation measurement157860638178606382Human
407167355GWAS816331_HFEV/FVC ratio, response to bronchodilator QTL GWAS816331 (human)0.0000008FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)157860638178606382Human
406963230GWAS612206_Hchronic obstructive pulmonary disease QTL GWAS612206 (human)0.0000006serum albumin measurementserum albumin level (CMO:0000550)157860638178606382Human


Additional Information

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
The highlighted row represents the current QTL
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS537622_H GCST003266 Pre bronchodilator FEV1 6,659 European ancestry current and former smoker individuals ? NR 2E-10 9.699 rs12914385 0.08249 forced expiratory volume (EFO:0004314)
 PMID:26634245
GWAS597643_H GCST002625 Chronic bronchitis and chronic obstructive pulmonary disease up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls T 0.42 0.000003 5.523 rs12914385 1.27 chronic obstructive pulmonary disease (EFO:0000341)
chronic bronchitis (EFO:0006505)
 PMID:25241909
GWAS597645_H GCST002625 Chronic bronchitis and chronic obstructive pulmonary disease up to 1,662 European ancestry cases, up to 3,520 European ancestry smoker controls, 182 African American cases, 1,749 African American smoker controls ? 0.42 2E-8 7.699 rs12914385 1.32 chronic obstructive pulmonary disease (EFO:0000341)
chronic bronchitis (EFO:0006505)
 PMID:25241909
GWAS610820_H GCST002351 Chronic obstructive pulmonary disease (moderate to severe) 5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls T 0.42 6E-14 13.222 rs12914385 1.28 chronic obstructive pulmonary disease (EFO:0000341)
 PMID:24621683
GWAS610827_H GCST002350 Chronic obstructive pulmonary disease (severe) 3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls T 0.42 3E-16 15.523 rs12914385 1.39 chronic obstructive pulmonary disease (EFO:0000341)
 PMID:24621683
GWAS612206_H GCST002795 Chronic obstructive pulmonary disease 3,281 European ancestry cases, 494 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls T NR 6E-7 6.222 rs12914385 1.23 chronic obstructive pulmonary disease (EFO:0000341)
 PMID:25101718
GWAS618842_H GCST003262 Post bronchodilator FEV1 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals T 0.626 1E-17 17 rs12914385 0.078 forced expiratory volume (EFO:0004314)
response to bronchodilator (GO:0097366)
 PMID:26634245
GWAS641050_H GCST011700 Cigarettes smoked per day (current) 17,014 European ancestry individuals T NR 4E-10 9.398 rs12914385 0.014 cigarettes per day measurement (EFO:0006525)
 PMID:33082346
GWAS673456_H GCST001251 Pulmonary function 48,201 European ancestry individuals T NR 5E-7 6.302 rs12914385 0.025 pulmonary function measurement (EFO:0003892)
forced expiratory volume (EFO:0004314)
 PMID:21946350
GWAS751657_H GCST003264 Post bronchodilator FEV1/FVC ratio 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals T 0.63 6E-18 17.222 rs12914385 0.016 FEV/FVC ratio (EFO:0004713)
response to bronchodilator (GO:0097366)
 PMID:26634245
GWAS816331_H GCST003265 Post bronchodilator FEV1/FVC ratio in COPD 5,439 European ancestry current and former smoker cases, 821 African American current and former smoker cases T 0.551 8E-7 6.097 rs12914385 0.012 FEV/FVC ratio (EFO:0004713)
response to bronchodilator (GO:0097366)
 PMID:26634245
GWAS820289_H GCST003267 Pre bronchodilator FEV1/FVC ratio 6,659 European ancestry current and former smoker individuals ? NR 1E-11 11 rs12914385 0.01751 FEV/FVC ratio (EFO:0004713)
 PMID:26634245
GWAS823894_H GCST90027056 Lung cancer 2,479 White British ancestry cases, 272,351 White British ancestry controls ? NR 6E-9 8.222 rs12914385 1.18515 lung carcinoma (EFO:0001071)
 PMID:34290314
GWAS833316_H GCST90018824 Chronic bronchitis 10,159 European ancestry cases, 440,263 European ancestry controls, 271 East Asian ancestry cases, 161,803 East Asian ancestry controls T NR 2E-16 15.699 rs12914385 0.1259 chronic bronchitis (EFO:0006505)
 PMID:34594039
None Available GCST001699 Serum albumin levels Up to 53,190 European ancestry individuals, 9,380 Japanese ancestry individuals C 0.61 6E-7 6.222 rs12914385 0.0077 serum albumin measurement (EFO:0004535)
 PMID:23022100
GWAS883768_H GCST003761 Emphysema distribution in smoking 7,039 European ancestry individuals, 2,955 African American individuals, 1538 individuals T 0.38 2E-17 16.699 rs12914385 0.11 emphysema pattern measurement (EFO:0005850)
 PMID:27669027
None Available GCST005919 Exhaled carbon monoxide levels in smokers with chronic obstructive pulmonary disease 2,706 European ancestry individuals ? NR 2E-8 7.699 rs12914385 0.12 carbon monoxide exhalation measurement (EFO:0006520)
 PMID:29631575
None Available GCST90162551 Chronic obstructive pulmonary disease 4,500 European ancestry cases, 4,436 European ancestry controls, 813 African American cases, 712 African American controls T NR 3E-16 15.523 rs12914385 1.36 chronic obstructive pulmonary disease (EFO:0000341)
 PMID:35953715
Database Acc Id Source(s)
GWAS Catalog GCST003761 GWAS Catalog

RGD Curation Notes
Note Type Note Reference