GWAS727158_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS727158_H (mean corpuscular volume QTL GWAS727158 (human)) Homo sapiens

Symbol: GWAS727158_H
Name: mean corpuscular volume QTL GWAS727158 (human)
RGD ID: 407078182
Trait: mean corpuscular volume
Measurement Type: mean corpuscular volume   (CMO:0000038)    
LOD Score: Not Available
P Value: 3.0E-13
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381424,221,945 - 24,221,946RGD_MAPPER_PIPELINEGRCh38
GRCh371424,691,151 - 24,691,152RGD_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)
GWAS727158_HHumanmean corpuscular volume  IAGPrs117531891405850206Based on the EFO term IDGWAS_CATALOGPMID:34594039

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS727158_HHumanmean corpuscular volume  IAGPrs117531891405850206 GWAS_CATALOGPMID:34594039
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
5013872NEDD8-MDP1NEDD8-MDP1 readthrough142421394324232367Human
735521NEDD8NEDD8 ubiquitin like modifier142421685724232367Human

Position Markers

Peak: (rs117531891)
Human AssemblyChrPosition (strand)Source
GRCh381424,221,945 - 24,221,946RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407131670GWAS780646_Hplatelet count QTL GWAS780646 (human)1e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)142422194524221946Human
407081031GWAS730007_Hplatelet count QTL GWAS730007 (human)1e-18platelet quantity (VT:0003179)platelet count (CMO:0000029)142422194524221946Human
407078182GWAS727158_Hmean corpuscular volume QTL GWAS727158 (human)3e-13mean corpuscular volumemean corpuscular volume (CMO:0000038)142422194524221946Human
407134882GWAS783858_Hmean corpuscular volume QTL GWAS783858 (human)4e-11mean corpuscular volumemean corpuscular volume (CMO:0000038)142422194524221946Human
407137614GWAS786590_Hprostate carcinoma QTL GWAS786590 (human)3e-11prostate carcinoma142422194524221946Human
407079032GWAS728008_Hmean corpuscular hemoglobin QTL GWAS728008 (human)6e-09mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)142422194524221946Human
407139544GWAS788520_Hprostate carcinoma QTL GWAS788520 (human)3e-09prostate carcinoma142422194524221946Human
407075726GWAS724702_Herythrocyte count QTL GWAS724702 (human)3e-12erythrocyte countred blood cell count (CMO:0000025)142422194524221946Human
406974380GWAS623356_Hmean corpuscular volume QTL GWAS623356 (human)2e-10mean corpuscular volumemean corpuscular volume (CMO:0000038)142422194524221946Human


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
GWAS623356_H GCST006011 Mean corpuscular volume 108,256 Japanese ancestry individuals ? NR 2E-10 9.699 rs117531891 0.05117 mean corpuscular volume (EFO:0004526)
PMID:29403010
GWAS724702_H GCST90018751 Red blood cell count 153,512 East Asian ancestry individuals T 0.074478 3E-12 11.523 rs117531891 0.0418532 erythrocyte count (EFO:0004305)
PMID:34594039
None Available GCST90018971 Red blood cell count 350,475 European ancestry individuals, 153,512 East Asian ancestry individuals T NR 3E-12 11.523 rs117531891 0.0419 erythrocyte count (EFO:0004305)
PMID:34594039
GWAS727158_H GCST90018966 Mean corpuscular volume 350,473 European ancestry individuals, 129,832 East Asian ancestry individuals T NR 3E-13 12.523 rs117531891 0.0503 mean corpuscular volume (EFO:0004526)
PMID:34594039
GWAS728008_H GCST90018964 Mean corpuscular hemoglobin 350,472 European ancestry individuals, 128,028 East Asian ancestry individuals T NR 6E-9 8.222 rs117531891 0.0406 mean corpuscular hemoglobin (EFO:0004527)
PMID:34594039
GWAS730007_H GCST90018969 Platelet count 350,474 European ancestry individuals, 148,623 East Asian ancestry individuals T NR 1E-18 18 rs117531891 0.0559 platelet count (EFO:0004309)
PMID:34594039
None Available GCST90018746 Mean corpuscular volume 129,832 East Asian ancestry individuals T 0.074508 3E-13 12.523 rs117531891 0.0503389 mean corpuscular volume (EFO:0004526)
PMID:34594039
None Available GCST90018749 Platelet count 148,623 East Asian ancestry individuals T 0.074467 1E-18 18 rs117531891 0.0559021 platelet count (EFO:0004309)
PMID:34594039
None Available GCST90018744 Mean corpuscular hemoglobin 128,028 East Asian ancestry individuals T 0.074424 6E-9 8.222 rs117531891 0.0406028 mean corpuscular hemoglobin (EFO:0004527)
PMID:34594039
GWAS780646_H GCST90002361 Platelet count 721,201 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals T 0.0164344 1E-12 12 rs117531891 N/A platelet count (EFO:0004309)
PMID:32888493
GWAS783858_H GCST90002338 Mean corpuscular volume 696,882 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals T 0.0137881 4E-11 10.398 rs117531891 N/A mean corpuscular volume (EFO:0004526)
PMID:32888493
GWAS786590_H GCST90274713 Prostate cancer 122,188 European ancestry cases, 604,640 European ancestry controls, 19,391 African American or Afro-Caribbean cases, 61,608 African American or Afro-Caribbean controls, 10,809 East Asian ancestry cases, 95,790 East Asian ancestry controls, 3,931 Hispanic or Latin American cases, 26,405 Hispanic or Latin American controls T NR 3E-11 10.523 rs117531891 1.18 prostate carcinoma (EFO:0001663)
PMID:37945903
GWAS788520_H GCST90274716 Prostate cancer 10,809 East Asian ancestry cases, 95,790 East Asian ancestry controls T 0.074 3E-9 8.523 rs117531891 1.19 prostate carcinoma (EFO:0001663)
PMID:37945903
Database Acc Id Source(s)
GWAS Catalog GCST90018746 GWAS Catalog
  GCST90018966 GWAS Catalog

RGD Curation Notes
Note Type Note Reference