GWAS950065_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS950065_H (body height QTL GWAS950065 (human)) Homo sapiens

Symbol: GWAS950065_H
Name: body height QTL GWAS950065 (human)
RGD ID: 407301089
Trait: body height   (VT:0001253)    
Measurement Type: body height   (CMO:0000106)    
LOD Score: Not Available
P Value: 3.0E-13
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38116,980,180 - 16,980,181RGD_MAPPER_PIPELINEGRCh38
GRCh37117,306,675 - 17,306,676RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS950065_HHumanbody height  IAGPrs2284746405850206Based on the EFO term IDGWAS_CATALOGPMID:31217584

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS950065_HHumanbody height  IAGPrs2284746405850206Based on the EFO term IDGWAS_CATALOGPMID:31217584

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS950065_HHumanbody height  IAGPrs2284746405850206 GWAS_CATALOGPMID:31217584
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement
body height  (IAGP)

Vertebrate Trait
body height  (IAGP)

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
1314413MFAP2microfibril associated protein 211697450216981583Human

Position Markers

Peak: (rs2284746)
Human AssemblyChrPosition (strand)Source
GRCh38116,980,180 - 16,980,181RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
406977505GWAS626481_HFEV/FVC ratio, pulmonary function measurement, smoking behaviour measurement QTL GWAS626481 (human)2e-11FEV/FVC ratio, pulmonary function measurement, smoking behaviour measurementforced expiratory volume to forced vital capacity ratio (CMO:0000241)11698018016980181Human
407010503GWAS659479_HFEV/FVC ratio, pulmonary function measurement QTL GWAS659479 (human)8e-16FEV/FVC ratio, pulmonary function measurementforced expiratory volume to forced vital capacity ratio (CMO:0000241)11698018016980181Human
407047237GWAS696213_Hbody mass index QTL GWAS696213 (human)7e-14body mass indexbody mass index (BMI) (CMO:0000105)11698018016980181Human
407170978GWAS819954_HFEV/FVC ratio QTL GWAS819954 (human)1e-10FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)11698018016980181Human
407301089GWAS950065_Hbody height QTL GWAS950065 (human)3e-13body height (VT:0001253)body height (CMO:0000106)11698018016980181Human
407409199GWAS1058175_Hdiastolic blood pressure QTL GWAS1058175 (human)3e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)11698018016980181Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
407216232GWAS865208_Hbody height QTL GWAS865208 (human)2e-09body height (VT:0001253)body height (CMO:0000106)11698018016980181Human
407147563GWAS796539_Hbody height QTL GWAS796539 (human)1e-40body height (VT:0001253)body height (CMO:0000106)11698018016980181Human
407413272GWAS1062248_Hdiastolic blood pressure QTL GWAS1062248 (human)5e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)11698018016980181Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407218612GWAS867588_Hbody height QTL GWAS867588 (human)1e-131body height (VT:0001253)body height (CMO:0000106)11698018016980181Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407145049GWAS794025_Hbody height QTL GWAS794025 (human)2e-25body height (VT:0001253)body height (CMO:0000106)11698018016980181Human
407127033GWAS776009_Hbody height QTL GWAS776009 (human)5e-15body height (VT:0001253)body height (CMO:0000106)11698018016980181Human
407147707GWAS796683_Hbody height QTL GWAS796683 (human)4e-29body height (VT:0001253)body height (CMO:0000106)11698018016980181Human


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
GWAS626481_H GCST001784 Pulmonary function (smoking interaction) 50,047 European ancestry individuals ? NR 2E-11 10.699 rs2284746 N/A FEV/FVC ratio (EFO:0004713)
pulmonary function measurement (EFO:0003892)
smoking behaviour measurement (EFO:0005671)
 PMID:23284291
GWAS659479_H GCST001248 Pulmonary function 48,201 European ancestry individuals G 0.52 8E-16 15.097 rs2284746 0.04 FEV/FVC ratio (EFO:0004713)
pulmonary function measurement (EFO:0003892)
 PMID:21946350
GWAS696213_H GCST90255621 Body mass index 1,122,049 European ancestry individuals G NR 7E-14 13.155 rs2284746 0.0098 body mass index (EFO:0004340)
 PMID:36581621
None Available GCST90309355 Body size (confirmatory factor analysis Factor 21) 329,172 European ancestry individuals ? NR 4E-42 41.398 rs2284746 N/A size (EFO:0001695)
 PMID:38965376
GWAS776009_H GCST001956 Height 8,097 European ancestry tall individuals, 8,099 European ancestry short individuals G 0.52 5E-15 14.302 rs2284746 1.17 body height (EFO:0004339)
 PMID:23563607
GWAS794025_H GCST002702 Height 36,227 East Asian ancestry individuals C 0.72 2E-25 24.699 rs2284746 0.06 body height (EFO:0004339)
 PMID:25429064
GWAS796539_H GCST002647 Height 253,288 European ancestry individuals C 0.475 1E-40 40 rs2284746 0.04 body height (EFO:0004339)
 PMID:25282103
GWAS796683_H GCST000817 Height 133,653 European ancestry individuals C 0.48 4E-29 28.398 rs2284746 0.04 body height (EFO:0004339)
 PMID:20881960
GWAS819954_H GCST004185 Lung function (FEV1/FVC) 48,943 European ancestry individuals G 0.5218 1E-10 10 rs2284746 0.042 FEV/FVC ratio (EFO:0004713)
 PMID:28166213
GWAS865208_H GCST90095033 Height 59,771 Hispanic or Latin American individuals C 0.5403 2E-9 8.699 rs2284746 0.033 body height (EFO:0004339)
 PMID:35399580
GWAS867588_H GCST007841 Height approximately 458,000 European ancestry individuals ? NR 1E-131 131 rs2284746 N/A body height (EFO:0004339)
 PMID:30595370
GWAS950065_H GCST008053 Height 17,286 African American individuals, 22,192 Hispanic/Latino individuals, 4,680 Asian ancestry individuals, 3,939 Native Hawaiian ancestry individuals, 647 Native American ancestry individuals, 1,052 individuals ? NR 3E-13 12.523 rs2284746 0.04452905 body height (EFO:0004339)
 PMID:31217584
GWAS1058175_H GCST90000059 Diastolic blood pressure 810,865 European ancestry individuals C 0.4815 3E-9 8.523 rs2284746 0.09217707 diastolic blood pressure (EFO:0006336)
 PMID:33230300
GWAS1062248_H GCST90292474 Diastolic blood pressure 1,164,961 European ancestry individuals C 0.4811 5E-9 8.302 rs2284746 0.07683023 diastolic blood pressure (EFO:0006336)
 PMID:33230300
Database Acc Id Source(s)
GWAS Catalog GCST008053 GWAS Catalog

RGD Curation Notes
Note Type Note Reference