GWAS929292_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS929292_H (mean corpuscular volume QTL GWAS929292 (human)) Homo sapiens

Symbol: GWAS929292_H
Name: mean corpuscular volume QTL GWAS929292 (human)
RGD ID: 407280316
Trait: mean corpuscular volume
Measurement Type: mean corpuscular volume   (CMO:0000038)    
LOD Score: Not Available
P Value: 2.0E-59
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh386164,057,356 - 164,057,357RGD_MAPPER_PIPELINEGRCh38
GRCh376164,478,388 - 164,478,389RGD_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)
GWAS929292_HHumanmean corpuscular volume  IAGPrs381500405850206Based on the EFO term IDGWAS_CATALOGPMID:32888494

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS929292_HHumanmean corpuscular volume  IAGPrs381500405850206 GWAS_CATALOGPMID:32888494
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
38626117LOC105378102uncharacterized LOC1053781026163903500164058966Human

Position Markers

Peak: (rs381500)
Human AssemblyChrPosition (strand)Source
GRCh386164,057,356 - 164,057,357RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407257733GWAS906709_Hmean corpuscular hemoglobin QTL GWAS906709 (human)6e-69mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)6164057356164057357Human
407257925GWAS906901_Hgenomic measurement QTL GWAS906901 (human)3e-09genomic measurement6164057356164057357Human
407232065GWAS881041_Hred blood cell density measurement QTL GWAS881041 (human)2e-67red blood cell density measurement6164057356164057357Human
407342465GWAS991441_Herythrocyte count QTL GWAS991441 (human)3e-47erythrocyte countred blood cell count (CMO:0000025)6164057356164057357Human
407253761GWAS902737_Hgenomic measurement QTL GWAS902737 (human)2e-09genomic measurement6164057356164057357Human
407157262GWAS806238_Hmosaic loss of chromosome Y measurement QTL GWAS806238 (human)5e-16mosaic loss of chromosome Y measurement6164057356164057357Human
407216009GWAS864985_Hplatelet count QTL GWAS864985 (human)2e-64platelet quantity (VT:0003179)platelet count (CMO:0000029)6164057356164057357Human
407221640GWAS870616_Hmean corpuscular hemoglobin QTL GWAS870616 (human)2e-22mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)6164057356164057357Human
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
407262672GWAS911648_Hplatelet count QTL GWAS911648 (human)6e-63platelet quantity (VT:0003179)platelet count (CMO:0000029)6164057356164057357Human
407302673GWAS951649_Hmean corpuscular volume QTL GWAS951649 (human)3e-109mean corpuscular volumemean corpuscular volume (CMO:0000038)6164057356164057357Human
407219800GWAS868776_Hmean corpuscular hemoglobin concentration QTL GWAS868776 (human)3e-82mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)6164057356164057357Human
407263643GWAS912619_Hmean corpuscular volume QTL GWAS912619 (human)9e-72mean corpuscular volumemean corpuscular volume (CMO:0000038)6164057356164057357Human
407133797GWAS782773_Hmean corpuscular volume QTL GWAS782773 (human)1e-19mean corpuscular volumemean corpuscular volume (CMO:0000038)6164057356164057357Human
407341408GWAS990384_Hplatelet crit QTL GWAS990384 (human)3e-72platelet critplateletcrit (CMO:0001349)6164057356164057357Human
407308151GWAS957127_Hplatelet count QTL GWAS957127 (human)3e-42platelet quantity (VT:0003179)platelet count (CMO:0000029)6164057356164057357Human
407335222GWAS984198_Herythrocyte count QTL GWAS984198 (human)4e-55erythrocyte countred blood cell count (CMO:0000025)6164057356164057357Human
407176113GWAS825089_Hred blood cell density measurement QTL GWAS825089 (human)4e-76red blood cell density measurement6164057356164057357Human
407200754GWAS849730_Hmean corpuscular volume QTL GWAS849730 (human)3e-50mean corpuscular volumemean corpuscular volume (CMO:0000038)6164057356164057357Human
407307647GWAS956623_Hmean corpuscular volume QTL GWAS956623 (human)8e-96mean corpuscular volumemean corpuscular volume (CMO:0000038)6164057356164057357Human
407339391GWAS988367_Herythrocyte count QTL GWAS988367 (human)1e-48erythrocyte countred blood cell count (CMO:0000025)6164057356164057357Human
407143869GWAS792845_Herythrocyte count QTL GWAS792845 (human)1e-14erythrocyte countred blood cell count (CMO:0000025)6164057356164057357Human
407250751GWAS899727_Hmean corpuscular hemoglobin concentration QTL GWAS899727 (human)2e-94mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)6164057356164057357Human
407280316GWAS929292_Hmean corpuscular volume QTL GWAS929292 (human)2e-59mean corpuscular volumemean corpuscular volume (CMO:0000038)6164057356164057357Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human


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
GWAS782773_H GCST004602 Mean corpuscular volume 172,433 European ancestry individuals A 0.452 1E-19 19 rs381500 0.03208978 mean corpuscular volume (EFO:0004526)
 PMID:27863252
GWAS792845_H GCST004601 Red blood cell count 172,952 European ancestry individuals A 0.452 1E-14 14 rs381500 0.02755191 erythrocyte count (EFO:0004305)
 PMID:27863252
GWAS806238_H GCST009375 Mosaic loss of chromosome Y (Y chromosome dosage) 67,034 European ancestry men C 0.55 5E-16 15.302 rs381500 0.002 mosaic loss of chromosome Y measurement (EFO:0007783)
 PMID:28346444
GWAS825089_H GCST90002367 Red blood cell count 727,624 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.440819 4E-76 75.398 rs381500 N/A red blood cell density measurement (EFO:0007978)
 PMID:32888493
GWAS849730_H GCST90056174 Mean corpuscular volume 362,595 British ancestry individuals C 0.549 3E-50 49.523 rs381500 0.16 mean corpuscular volume (EFO:0004526)
 PMID:34104963
GWAS864985_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 A 0.44134 2E-64 63.699 rs381500 N/A platelet count (EFO:0004309)
 PMID:32888493
GWAS868776_H GCST90002322 Mean corpuscular hemoglobin 486,823 European ancestry individuals A 0.452763 3E-82 81.523 rs381500 0.036795 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GWAS870616_H GCST004630 Mean corpuscular hemoglobin 172,332 European ancestry individuals A 0.4521 2E-22 21.699 rs381500 0.03468043 mean corpuscular hemoglobin (EFO:0004527)
 PMID:27863252
GWAS881041_H GCST90002363 Red blood cell count 545,203 European ancestry individuals A 0.453833 2E-67 66.699 rs381500 0.032019 red blood cell density measurement (EFO:0007978)
 PMID:32888493
GWAS899727_H GCST90002326 Mean corpuscular hemoglobin 630,125 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.440343 2E-94 93.699 rs381500 N/A mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GWAS906709_H GCST90002390 Mean corpuscular hemoglobin 408,112 British individuals A 0.452049 6E-69 68.222 rs381500 0.037422474 mean corpuscular hemoglobin (EFO:0004527)
 PMID:32888494
GWAS911648_H GCST90002357 Platelet count 542,827 European ancestry individuals A 0.454053 6E-63 62.222 rs381500 0.030693 platelet count (EFO:0004309)
 PMID:32888493
GWAS912619_H GCST90002392 Mean corpuscular volume 408,112 British individuals A 0.452019 9E-72 71.046 rs381500 0.0378911 mean corpuscular volume (EFO:0004526)
 PMID:32888494
GWAS929292_H GCST90002397 Mean spheric corpuscular volume 408,112 British individuals A 0.452048 2E-59 58.699 rs381500 0.03565187 mean corpuscular volume (EFO:0004526)
 PMID:32888494
GWAS951649_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 A 0.44248 3E-109 108.523 rs381500 N/A mean corpuscular volume (EFO:0004526)
 PMID:32888493
GWAS956623_H GCST90002334 Mean corpuscular volume 544,127 European ancestry individuals A 0.453819 8E-96 95.097 rs381500 0.037469 mean corpuscular volume (EFO:0004526)
 PMID:32888493
GWAS957127_H GCST90002402 Platelet count 408,112 British individuals A 0.452018 3E-42 41.523 rs381500 0.03064786 platelet count (EFO:0004309)
 PMID:32888494
GWAS984198_H GCST007069 Red blood cell count approximately 445,000 European ancestry individuals ? NR 4E-55 54.398 rs381500 N/A erythrocyte count (EFO:0004305)
 PMID:30595370
GWAS988367_H GCST90002403 Red blood cell count 408,112 British individuals A 0.452051 1E-48 48 rs381500 0.032030344 erythrocyte count (EFO:0004305)
 PMID:32888494
GWAS990384_H GCST90002400 Plateletcrit 408,112 British individuals A 0.452003 3E-72 71.523 rs381500 0.040412076 platelet crit (EFO:0007985)
 PMID:32888494
GWAS991441_H GCST90018971 Red blood cell count 350,475 European ancestry individuals, 153,512 East Asian ancestry individuals A NR 3E-47 46.523 rs381500 0.025 erythrocyte count (EFO:0004305)
 PMID:34594039
None Available GCST90328150 Mosaic loss of chromosome X 91,689 European ancestry female cases, 714,568 European ancestry female controls, 13,597 East Asian ancestry female cases, 63,720 East Asian ancestry female controls ? NR 3E-9 8.523 rs381500 0.0302 PMID:38867047
None Available GCST90328148 Mosaic loss of chromosome X 806,257 European ancestry females, 77,317 East Asian ancestry females ? NR 2E-9 8.699 rs381500 N/A PMID:38867047
Database Acc Id Source(s)
GWAS Catalog GCST90002397 GWAS Catalog

RGD Curation Notes
Note Type Note Reference