GWAS805551_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS805551_H (mean platelet volume QTL GWAS805551 (human)) Homo sapiens

Symbol: GWAS805551_H
Name: mean platelet volume QTL GWAS805551 (human)
RGD ID: 407156575
Trait: mean platelet volume
Measurement Type: mean platelet volume   (CMO:0001348)    
LOD Score: Not Available
P Value: 4.0E-20
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38201,570,839 - 1,570,840RGD_MAPPER_PIPELINEGRCh38
GRCh37201,551,485 - 1,551,486RGD_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)
GWAS805551_HHumanmean platelet volume  IAGPrs2254458405850206Based on the EFO term IDGWAS_CATALOGPMID:38064665

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS805551_HHumanmean platelet volume  IAGPrs2254458405850206 GWAS_CATALOGPMID:38064665
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
1347883SIRPB1signal regulatory protein beta 12015613851620009Human

Position Markers

Peak: (rs2254458)
Human AssemblyChrPosition (strand)Source
GRCh38201,570,839 - 1,570,840RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407168725GWAS817701_Hplatelet measurement QTL GWAS817701 (human)9e-13platelet measurementplatelet measurement (CMO:0000921)2015708391570840Human
407326064GWAS975040_Hneutrophil count QTL GWAS975040 (human)1e-10neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)2015708391570840Human
407091561GWAS740537_Hmitochondrial DNA measurement QTL GWAS740537 (human)8e-10mitochondrial DNA measurement2015708391570840Human
407156575GWAS805551_Hmean platelet volume QTL GWAS805551 (human)4e-20mean platelet volumemean platelet volume (CMO:0001348)2015708391570840Human
407263117GWAS912093_Hneutrophil count QTL GWAS912093 (human)2e-10neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)2015708391570840Human
407170826GWAS819802_Hplatelet measurement QTL GWAS819802 (human)9e-10platelet measurementplatelet measurement (CMO:0000921)2015708391570840Human


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
GWAS740537_H GCST90268498 Mitochondrial DNA copy number (raw) 155,998 European ancestry individuals, 2,138 African American or Afro-Caribbean individuals, 381 Hispanic or Latin American individuals, 3,326 Central Asian ancestry individuals, 958 East Asian ancestry individuals, 571 Greater Middle Eastern (Middle Eastern, North African or Persian) individuals C 0.34947 8E-10 9.097 rs2254458 0.022497 mitochondrial DNA measurement (EFO:0006312)
 PMID:37587338
GWAS805551_H GCST90302231 Mean platelet volume during third trimester of pregnancy 71,605 Chinese ancestry individuals C 0.192443 4E-20 19.398 rs2254458 0.0804 mean platelet volume (EFO:0004584)
 PMID:38064665
GWAS817701_H GCST90281193 Platelet side fluorescence 29,678 European ancestry individuals T 0.6344 9E-13 12.046 rs2254458 0.0607834 platelet measurement (EFO:0005036)
 PMID:37596262
GWAS819802_H GCST90281194 Platelet forward scatter 29,662 European ancestry individuals T 0.6343 9E-10 9.046 rs2254458 0.0518895 platelet measurement (EFO:0005036)
 PMID:37596262
GWAS912093_H GCST90002351 Neutrophil count 519,288 European ancestry individuals T 0.644615 2E-10 9.699 rs2254458 0.013414 neutrophil count (EFO:0004833)
 PMID:32888493
GWAS975040_H GCST90002398 Neutrophil count 408,112 British individuals T 0.645493 1E-10 10 rs2254458 0.015007722 neutrophil count (EFO:0004833)
 PMID:32888494
Database Acc Id Source(s)
GWAS Catalog GCST90302231 GWAS Catalog

RGD Curation Notes
Note Type Note Reference