GWAS895241_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS895241_H (mean corpuscular hemoglobin concentration QTL GWAS895241 (human)) Homo sapiens

Symbol: GWAS895241_H
Name: mean corpuscular hemoglobin concentration QTL GWAS895241 (human)
RGD ID: 407246265
Trait: mean corpuscular hemoglobin concentration
Measurement Type: mean corpuscular hemoglobin concentration   (CMO:0000291)    
LOD Score: Not Available
P Value: 2.0E-48
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381845,730,450 - 45,730,451RGD_MAPPER_PIPELINEGRCh38
GRCh371843,310,415 - 43,310,416RGD_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)
GWAS895241_HHumanmean corpuscular hemoglobin concentration  IAGPrs2298720405850206Based on the EFO term IDGWAS_CATALOGPMID:32888493

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS895241_HHumanmean corpuscular hemoglobin concentration  IAGPrs2298720405850206 GWAS_CATALOGPMID:32888493
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
38661747LOC105372093uncharacterized LOC105372093184560633645782836Human
1354455SLC14A1solute carrier family 14 member 1 (Kidd blood group)184572418145752520Human

Position Markers

Peak: (rs2298720)
Human AssemblyChrPosition (strand)Source
GRCh381845,730,450 - 45,730,451RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406912595GWAS561571_Hhematocrit QTL GWAS561571 (human)7e-15hematocrithematocrit (CMO:0000037)184573045045730451Human
407192259GWAS841235_Hmean corpuscular hemoglobin concentration QTL GWAS841235 (human)2e-60mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)184573045045730451Human
407340733GWAS989709_Hmean corpuscular hemoglobin concentration QTL GWAS989709 (human)1e-45mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)184573045045730451Human
407306187GWAS955163_Hmean corpuscular hemoglobin concentration QTL GWAS955163 (human)2e-46mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)184573045045730451Human
407246265GWAS895241_Hmean corpuscular hemoglobin concentration QTL GWAS895241 (human)2e-48mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)184573045045730451Human


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
GWAS561571_H GCST90278634 Hematocrit 92,615 Taiwanese ancestry individuals ? NR 7E-15 14.155 rs2298720 N/A hematocrit (EFO:0004348)
PMID:38116116
GWAS841235_H GCST90018745 Mean corpuscular hemoglobin concentration 135,482 East Asian ancestry individuals A 0.386974 2E-60 59.699 rs2298720 0.060735 mean corpuscular hemoglobin concentration (EFO:0004528)
PMID:34594039
GWAS895241_H GCST90002329 Mean corpuscular hemoglobin concentration 126,151 East Asian ancestry individuals G 0.612407 2E-48 47.699 rs2298720 0.059659 mean corpuscular hemoglobin concentration (EFO:0004528)
PMID:32888493
GWAS955163_H GCST90002332 Mean corpuscular hemoglobin concentration 642,173 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.135532 2E-46 45.699 rs2298720 N/A mean corpuscular hemoglobin concentration (EFO:0004528)
PMID:32888493
GWAS989709_H GCST90018965 Mean corpuscular hemoglobin concentration 350,468 European ancestry individuals, 135,482 East Asian ancestry individuals A NR 1E-45 45 rs2298720 0.0415 mean corpuscular hemoglobin concentration (EFO:0004528)
PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90002329 GWAS Catalog

RGD Curation Notes
Note Type Note Reference