GWAS972255_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS972255_H (hematocrit QTL GWAS972255 (human)) Homo sapiens

Symbol: GWAS972255_H
Name: hematocrit QTL GWAS972255 (human)
RGD ID: 407323279
Trait: hematocrit
Measurement Type: hematocrit   (CMO:0000037)    
LOD Score: Not Available
P Value: 2.0E-19
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38352,508,903 - 52,508,904RGD_MAPPER_PIPELINEGRCh38
GRCh37352,542,919 - 52,542,920RGD_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)
GWAS972255_HHumanhematocrit  IAGPrs1010554405850206Based on the EFO term IDGWAS_CATALOGPMID:34594039

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS972255_HHumanhematocrit  IAGPrs1010554405850206 GWAS_CATALOGPMID:34594039
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement
hematocrit  (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
1321166STAB1stabilin 135249533852524495Human

Position Markers

Peak: (rs1010554)
Human AssemblyChrPosition (strand)Source
GRCh38352,508,903 - 52,508,904RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
407323279GWAS972255_Hhematocrit QTL GWAS972255 (human)2e-19hematocrithematocrit (CMO:0000037)35250890352508904Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
407281640GWAS930616_Hmemory performance QTL GWAS930616 (human)0.0000003memory performance35250890352508904Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human
407334008GWAS982984_Hserum gamma-glutamyl transferase measurement QTL GWAS982984 (human)3e-14serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)35250890352508904Human
407264297GWAS913273_Hpulse pressure measurement QTL GWAS913273 (human)1e-10pulse pressure measurementpulse pressure (CMO:0000292)35250890352508904Human


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
GWAS913273_H GCST90301701 Pulse pressure 349,328 British ancestry individuals T NR 1E-10 10 rs1010554 0.01 pulse pressure measurement (EFO:0005763)
 PMID:38459180
GWAS930616_H GCST90162632 Verbal learning 28,909 European ancestry individuals T 0.4727 3E-7 6.523 rs1010554 5.135 memory performance (EFO:0004874)
 PMID:35974141
GWAS972255_H GCST90018960 Hematocrit 350,475 European ancestry individuals, 153,015 East Asian ancestry individuals C NR 2E-19 18.699 rs1010554 0.015 hematocrit (EFO:0004348)
 PMID:34594039
GWAS982984_H GCST90018954 Gamma glutamyl transpeptidase 344,104 European ancestry individuals, 133,471 East Asian ancestry individuals C NR 3E-14 13.523 rs1010554 0.0143 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90018960 GWAS Catalog

RGD Curation Notes
Note Type Note Reference