GWAS1023741_H QTL Report (Homo sapiens) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
QTL Registration

QTL: GWAS1023741_H (heel bone mineral density QTL GWAS1023741 (human)) Homo sapiens

Symbol: GWAS1023741_H
Name: heel bone mineral density QTL GWAS1023741 (human)
RGD ID: 407374765
Trait: heel bone mineral density
Measurement Type: bone mineral density   (CMO:0001226)    
LOD Score: Not Available
P Value: 2.0E-38
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3812,988,070 - 2,988,071RGD_MAPPER_PIPELINEGRCh38
GRCh3712,904,634 - 2,904,635RGD_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)
GWAS1023741_HHumanbone mineral density  IAGPrs139603701405850206Based on the EFO term IDGWAS_CATALOGPMID:30048462

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1023741_HHumanheel bone mineral density  IAGPrs139603701405850206 GWAS_CATALOGPMID:30048462
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

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

Position Markers

Peak: (rs139603701)
Human AssemblyChrPosition (strand)Source
GRCh3812,988,070 - 2,988,071RGD_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
407307526GWAS956502_Hheel bone mineral density QTL GWAS956502 (human)0.000001heel bone mineral densitybone mineral density (CMO:0001226)129880702988071Human
407374765GWAS1023741_Hheel bone mineral density QTL GWAS1023741 (human)2e-38heel bone mineral densitybone mineral density (CMO:0001226)129880702988071Human
407349964GWAS998940_Hheel bone mineral density QTL GWAS998940 (human)0.0000001heel bone mineral densitybone mineral density (CMO:0001226)129880702988071Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
407060862GWAS709838_Hheel bone mineral density QTL GWAS709838 (human)7e-47heel bone mineral densitybone mineral density (CMO:0001226)129880702988071Human
407378966GWAS1027942_Hheel bone mineral density QTL GWAS1027942 (human)1e-43heel bone mineral densitybone mineral density (CMO:0001226)129880702988071Human
407348457GWAS997433_Hheel bone mineral density QTL GWAS997433 (human)6e-14heel bone mineral densitybone mineral density (CMO:0001226)129880702988071Human


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
GWAS709838_H GCST006979 Heel bone mineral density 426,824 British ancestry individuals A 0.985074 7E-47 46.155 rs139603701 0.106409 heel bone mineral density (EFO:0009270)
 PMID:30598549
GWAS956502_H GCST006288 Heel bone mineral density 76,067 European ancestry women, 66,420 European ancestry men A 0.982754 0.000001 6 rs139603701 0.0965936 heel bone mineral density (EFO:0009270)
 PMID:28869591
GWAS997433_H GCST006288 Heel bone mineral density 76,067 European ancestry women, 66,420 European ancestry men A 0.982645 6E-14 13.222 rs139603701 0.0963293 heel bone mineral density (EFO:0009270)
 PMID:28869591
GWAS998940_H GCST006288 Heel bone mineral density 76,067 European ancestry women, 66,420 European ancestry men A 0.982549 1E-7 7 rs139603701 0.101128 heel bone mineral density (EFO:0009270)
 PMID:28869591
GWAS1023741_H GCST006433 Heel bone mineral density 394,929 European ancestry individuals ? NR 2E-38 37.699 rs139603701 0.104629 heel bone mineral density (EFO:0009270)
 PMID:30048462
GWAS1027942_H GCST007066 Heel bone mineral density approximately 446,000 European ancestry individuals ? NR 1E-43 43 rs139603701 N/A heel bone mineral density (EFO:0009270)
 PMID:30595370
Database Acc Id Source(s)
GWAS Catalog GCST006433 GWAS Catalog

RGD Curation Notes
Note Type Note Reference