GWAS734000_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS734000_H (mean corpuscular volume QTL GWAS734000 (human)) Homo sapiens

Symbol: GWAS734000_H
Name: mean corpuscular volume QTL GWAS734000 (human)
RGD ID: 407085024
Trait: mean corpuscular volume
Measurement Type: mean corpuscular volume   (CMO:0000038)    
LOD Score: Not Available
P Value: 2.0E-13
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38123,514,123 - 23,514,124RGD_MAPPER_PIPELINEGRCh38
GRCh37123,840,615 - 23,840,616RGD_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)
GWAS734000_HHumanmean corpuscular volume  IAGPrs35229050405850206Based on the EFO term IDGWAS_CATALOGPMID:27863252

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS734000_HHumanmean corpuscular volume  IAGPrs35229050405850206 GWAS_CATALOGPMID:27863252
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
1348982E2F2E2F transcription factor 212350521223531233Human

Position Markers

Peak: (rs35229050)
Human AssemblyChrPosition (strand)Source
GRCh38123,514,123 - 23,514,124RGD_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
407085024GWAS734000_Hmean corpuscular volume QTL GWAS734000 (human)2e-13mean corpuscular volumemean corpuscular volume (CMO:0000038)12351412323514124Human
407131682GWAS780658_Hmean corpuscular volume QTL GWAS780658 (human)4e-47mean corpuscular volumemean corpuscular volume (CMO:0000038)12351412323514124Human
407079556GWAS728532_Hmean corpuscular hemoglobin QTL GWAS728532 (human)7e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)12351412323514124Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
407073715GWAS722691_Hmean corpuscular volume QTL GWAS722691 (human)1e-35mean corpuscular volumemean corpuscular volume (CMO:0000038)12351412323514124Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407131286GWAS780262_Hmean corpuscular volume QTL GWAS780262 (human)2e-09mean corpuscular volumemean corpuscular volume (CMO:0000038)12351412323514124Human
407132721GWAS781697_Hmean reticulocyte volume QTL GWAS781697 (human)1e-56reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)12351412323514124Human
407078170GWAS727146_Hmean corpuscular hemoglobin QTL GWAS727146 (human)2e-31mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)12351412323514124Human
407092728GWAS741704_Hmean corpuscular hemoglobin QTL GWAS741704 (human)1e-42mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)12351412323514124Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407133466GWAS782442_Hmean corpuscular volume QTL GWAS782442 (human)1e-45mean corpuscular volumemean corpuscular volume (CMO:0000038)12351412323514124Human


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
GWAS722691_H GCST90018966 Mean corpuscular volume 350,473 European ancestry individuals, 129,832 East Asian ancestry individuals T NR 1E-35 35 rs35229050 0.0299 mean corpuscular volume (EFO:0004526)
 PMID:34594039
GWAS727146_H GCST90018964 Mean corpuscular hemoglobin 350,472 European ancestry individuals, 128,028 East Asian ancestry individuals T NR 2E-31 30.699 rs35229050 0.028 mean corpuscular hemoglobin (EFO:0004527)
 PMID:34594039
GWAS728532_H GCST004630 Mean corpuscular hemoglobin 172,332 European ancestry individuals T 0.5455 7E-13 12.155 rs35229050 0.02572019 mean corpuscular hemoglobin (EFO:0004527)
 PMID:27863252
GWAS734000_H GCST004602 Mean corpuscular volume 172,433 European ancestry individuals T 0.5455 2E-13 12.699 rs35229050 0.02624126 mean corpuscular volume (EFO:0004526)
 PMID:27863252
GWAS741704_H GCST90002390 Mean corpuscular hemoglobin 408,112 British individuals T 0.54478 1E-42 42 rs35229050 0.030555816 mean corpuscular hemoglobin (EFO:0004527)
 PMID:32888494
GWAS780262_H GCST90093297 Mean corpuscular volume 22,267 Amish, White ancestry individuals, 447 Asian ancestry individuals, 12,285 Black individuals, 13,831 Central American ancestry, Cuban ancestry, Dominican ancestry, Mexican ancestry, Puerto Rican ancestry, South American ancestry individuals T NR 2E-9 8.699 rs35229050 0.22 mean corpuscular volume (EFO:0004526)
 PMID:33887194
GWAS780658_H GCST90002392 Mean corpuscular volume 408,112 British individuals T 0.544767 4E-47 46.398 rs35229050 0.0349073 mean corpuscular volume (EFO:0004526)
 PMID:32888494
GWAS781697_H GCST90002396 Mean reticulocyte volume 408,112 British individuals T 0.544591 1E-56 56 rs35229050 0.035641752 mean reticulocyte volume (EFO:0010701)
 PMID:32888494
GWAS782442_H GCST90002397 Mean spheric corpuscular volume 408,112 British individuals T 0.54475 1E-45 45 rs35229050 0.031756576 mean corpuscular volume (EFO:0004526)
 PMID:32888494
Database Acc Id Source(s)
GWAS Catalog GCST004602 GWAS Catalog

RGD Curation Notes
Note Type Note Reference