GWAS840994_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS840994_H (glomerular filtration rate QTL GWAS840994 (human)) Homo sapiens

Symbol: GWAS840994_H
Name: glomerular filtration rate QTL GWAS840994 (human)
RGD ID: 407192018
Trait: glomerular filtration rate
Measurement Type: blood creatinine measurement   (CMO:0000767)    
glomerular filtration rate   (CMO:0000490)    
LOD Score: Not Available
P Value: 1.0E-10
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381557,437,091 - 57,437,092RGD_MAPPER_PIPELINEGRCh38
GRCh371557,729,289 - 57,729,290RGD_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)
GWAS840994_HHumanblood creatinine measurement  IAGPrs4774940405850206Based on the EFO term IDGWAS_CATALOGPMID:33462484
GWAS840994_HHumanglomerular filtration rate  IAGPrs4774940405850206Based on the EFO term IDGWAS_CATALOGPMID:35710981

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS840994_HHumancreatinine measurement  IAGPrs4774940405850206 GWAS_CATALOGPMID:33462484
GWAS840994_HHumanglomerular filtration rate  IAGPrs4774940405850206 GWAS_CATALOGPMID:35710981
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

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
1353387CGNL1cingulin like 1155737650557550717Human

Position Markers

Peak: (rs4774940)
Human AssemblyChrPosition (strand)Source
GRCh381557,437,091 - 57,437,092RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
407113217GWAS762193_Herythrocyte count QTL GWAS762193 (human)1e-09erythrocyte countred blood cell count (CMO:0000025)155743709157437092Human
407192018GWAS840994_Hglomerular filtration rate QTL GWAS840994 (human)1e-10creatinine measurementblood creatinine measurement (CMO:0000767)155743709157437092Human
407316016GWAS964992_Hglomerular filtration rate QTL GWAS964992 (human)7e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)155743709157437092Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human


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
GWAS762193_H GCST007069 Red blood cell count approximately 445,000 European ancestry individuals ? NR 1E-9 9 rs4774940 N/A erythrocyte count (EFO:0004305)
 PMID:30595370
GWAS840994_H GCST90100220 Estimated glomerular filtration rate (creatinine) 1,205,871 European ancestry individuals, 168,300 East Asian ancestry individuals, 63,553 African ancestry individuals, 23,509 Hispanic or Latin American individuals, 22,103 African American individuals, 21,791 Central Asian or South Asian ancestry individuals, 1,502 Middle Eastern ancestry individuals, 939 other admixed ancestry individuals, 602 Native American ancestry individuals, 150 Asian ancestry individuals, 339 individuals C 0.3108 1E-10 10 rs4774940 6.436 glomerular filtration rate (EFO:0005208)
 PMID:35710981
None Available GCST90019502 Creatinine levels 342,376 European ancestry individuals, 6,016 African ancestry individuals, 7,339 South Asian ancestry individuals C NR 1E-10 10 rs4774940 0.0164 creatinine measurement (EFO:0004518)
 PMID:33462484
GWAS964992_H GCST90019506 Estimated glomerular filtration rate 342,376 European ancestry individuals, 6,016 African ancestry individuals, 7,339 South Asian ancestry individuals C NR 7E-10 9.155 rs4774940 0.0158 glomerular filtration rate (EFO:0005208)
 PMID:33462484
Database Acc Id Source(s)
GWAS Catalog GCST90019502 GWAS Catalog
  GCST90100220 GWAS Catalog

RGD Curation Notes
Note Type Note Reference