GWAS1284525_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS1284525_H (mitochondrial DNA measurement QTL GWAS1284525 (human)) Homo sapiens

Symbol: GWAS1284525_H
Name: mitochondrial DNA measurement QTL GWAS1284525 (human)
RGD ID: 597188451
Trait: mitochondrial DNA measurement
LOD Score: Not Available
P Value: 3.0E-11
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3813,080,038 - 3,080,039RGD_MAPPER_PIPELINEGRCh38
GRCh3712,996,602 - 2,996,603RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1284525_HHumanmitochondrial DNA measurement  IAGPrs1569419405850206 GWAS_CATALOGPMID:37587338

#
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


The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
1353101PRDM16PR/SET domain 16130692033438621Human


Peak: (rs1569419)
Human AssemblyChrPosition (strand)Source
GRCh3813,080,038 - 3,080,039RGD_MAPPER_PIPELINE


1 to 10 of 29 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
597599702GWAS1656562_Hmean corpuscular hemoglobin concentration QTL GWAS1656562 (human)2e-26mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)130800383080039Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
597058503GWAS1154577_HFEV/FVC ratio QTL GWAS1154577 (human)1e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)130800383080039Human
406890772GWAS539748_Hreticulocyte measurement QTL GWAS539748 (human)3e-13reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)130800383080039Human
597188878GWAS1284952_Hmitochondrial DNA measurement QTL GWAS1284952 (human)5e-12mitochondrial DNA measurement130800383080039Human
597102799GWAS1198873_Hplatelet crit QTL GWAS1198873 (human)5e-48platelet quantity (VT:0003179)plateletcrit (CMO:0001349)130800383080039Human
406890137GWAS539113_Hmean corpuscular hemoglobin QTL GWAS539113 (human)2e-34mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)130800383080039Human
597090316GWAS1186390_Hmean reticulocyte volume QTL GWAS1186390 (human)4e-32reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)130800383080039Human
406891230GWAS540206_Hmean corpuscular hemoglobin QTL GWAS540206 (human)2e-31mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)130800383080039Human

1 to 10 of 29 rows


1 to 20 of 53 rows
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
GWAS1284525_H GCST90268497 Mitochondrial DNA copy number (adjusted) 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 T 0.23555 3E-11 10.523 rs1569419 0.027895 mitochondrial DNA measurement (EFO:0006312)
PMID:37587338
GWAS1698005_H GCST004599 Mean platelet volume 164,454 European ancestry individuals C 0.7645 1E-22 22 rs1569419 0.04211349 platelet volume (OBA:0003277)
PMID:27863252
GWAS539113_H GCST007068 Mean corpuscular hemoglobin approximately 443,000 European ancestry individuals ? NR 2E-34 33.699 rs1569419 N/A mean corpuscular hemoglobin (EFO:0004527)
PMID:30595370
GWAS539143_H GCST90002322 Mean corpuscular hemoglobin 486,823 European ancestry individuals C 0.765562 7E-32 31.155 rs1569419 0.027133 mean corpuscular hemoglobin concentration (EFO:0004528)
PMID:32888493
GWAS539332_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 C 0.791831 6E-29 28.222 rs1569419 N/A mean corpuscular hemoglobin concentration (EFO:0004528)
PMID:32888493
GWAS539748_H GCST90002387 Immature fraction of reticulocytes 408,112 British individuals C 0.766568 3E-13 12.523 rs1569419 0.019441457 reticulocyte measurement (EFO:0010700)
PMID:32888494
GWAS540206_H GCST90002390 Mean corpuscular hemoglobin 408,112 British individuals C 0.766493 2E-31 30.699 rs1569419 0.030608626 mean corpuscular hemoglobin (EFO:0004527)
PMID:32888494
GWAS546802_H GCST004616 Platelet distribution width 164,433 European ancestry individuals C 0.7645 2E-11 10.699 rs1569419 0.02859096 platelet component distribution width (EFO:0007984)
PMID:27863252
GWAS548167_H GCST004630 Mean corpuscular hemoglobin 172,332 European ancestry individuals C 0.7652 4E-14 13.398 rs1569419 0.03186936 mean corpuscular hemoglobin (EFO:0004527)
PMID:27863252
GWAS1118087_H GCST004601 Red blood cell count 172,952 European ancestry individuals C 0.7653 2E-10 9.699 rs1569419 0.02702963 erythrocyte count (EFO:0004305)
PMID:27863252
GWAS548402_H GCST004607 Plateletcrit 164,339 European ancestry individuals C 0.7644 7E-24 23.155 rs1569419 0.04387502 platelet crit (EFO:0007985)
PMID:27863252
GWAS1701739_H GCST90002346 Mean platelet volume 460,935 European ancestry individuals T 0.234405 3E-44 43.523 rs1569419 0.03195 platelet volume (OBA:0003277)
PMID:32888493
GWAS1702111_H GCST90002334 Mean corpuscular volume 544,127 European ancestry individuals C 0.76567 1E-31 31 rs1569419 0.026656 erythrocyte volume (OBA:0003460)
PMID:32888493
GWAS1702534_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 C 0.791802 7E-29 28.155 rs1569419 N/A erythrocyte volume (OBA:0003460)
PMID:32888493
GWAS1640348_H GCST90479674 mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed) 114,836 African American or Afro-Caribbean individuals, 55,792 Hispanic or Latin American individuals, 5,944 East Asian ancestry individuals, 407,317 European ancestry individuals T 0.2627 9E-12 11.046 rs1569419 0.02508 mean corpuscular hemoglobin concentration (EFO:0004528)
PMID:39024449
GWAS1703575_H GCST90002349 Mean platelet volume 484,042 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals T 0.238011 7E-41 40.155 rs1569419 N/A platelet volume (OBA:0003277)
PMID:32888493
GWAS1707968_H GCST004602 Mean corpuscular volume 172,433 European ancestry individuals C 0.7652 1E-13 13 rs1569419 0.03114303 erythrocyte volume (OBA:0003460)
PMID:27863252
GWAS1139179_H GCST007069 Red blood cell count approximately 445,000 European ancestry individuals ? NR 2E-22 21.699 rs1569419 N/A erythrocyte count (EFO:0004305)
PMID:30595370
GWAS1649681_H GCST90476296 platelet count (maximum, inv-norm transformed) 406,601 European ancestry individuals T 0.2456 5E-28 27.302 rs1569419 0.04078 platelet count (EFO:0004309)
PMID:39024449
GWAS1154577_H GCST007080 Lung function (FEV1/FVC) approximately 370,000 European ancestry individuals ? NR 1E-8 8 rs1569419 N/A FEV/FVC ratio (EFO:0004713)
PMID:30595370
1 to 20 of 53 rows
Database
Acc Id
Source(s)
GWAS Catalog GCST90268497 GWAS Catalog

Note Type Note Reference