GWAS789658_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS789658_H (very low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS789658 (human)) Homo sapiens

Symbol: GWAS789658_H
Name: very low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS789658 (human)
RGD ID: 407140682
Trait: very low density lipoprotein cholesterol measurement, esterified cholesterol measurement
Measurement Type: blood very low density lipoprotein cholesterol level   (CMO:0000648)    
LOD Score: Not Available
P Value: 5.0E-11
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38575,352,778 - 75,352,779RGD_MAPPER_PIPELINEGRCh38
GRCh37574,648,603 - 74,648,604RGD_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)
GWAS789658_HHumanblood very low density lipoprotein cholesterol level  IAGPrs12654264405850206Based on the EFO term IDGWAS_CATALOGPMID:38448586

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS789658_HHumanesterified cholesterol measurement  IAGPrs12654264405850206 GWAS_CATALOGPMID:38448586
GWAS789658_HHumanvery low density lipoprotein cholesterol measurement  IAGPrs12654264405850206 GWAS_CATALOGPMID:38448586
Experimental Data Annotations     Click to see Annotation Detail View

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
731579HMGCR3-hydroxy-3-methylglutaryl-CoA reductase57533652975362116Human

Position Markers

Peak: (rs12654264)
Human AssemblyChrPosition (strand)Source
GRCh38575,352,778 - 75,352,779RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407139760GWAS788736_Htriglycerides in medium LDL measurement QTL GWAS788736 (human)1e-18triglycerides in medium LDL measurement 57535277875352779Human
406991526GWAS640502_Htotal cholesterol measurement QTL GWAS640502 (human)7e-20total cholesterol measurementblood total cholesterol level (CMO:0000051)57535277875352779Human
407023079GWAS672055_Hlow density lipoprotein cholesterol measurement QTL GWAS672055 (human)1e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)57535277875352779Human
407013815GWAS662791_Hlow density lipoprotein cholesterol measurement QTL GWAS662791 (human)0.000001low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)57535277875352779Human
407128482GWAS777458_Htriglycerides in small LDL measurement QTL GWAS777458 (human)2e-19triglycerides in small LDL measurement 57535277875352779Human
407183391GWAS832367_Htotal cholesterol measurement QTL GWAS832367 (human)0.0000003total cholesterol measurementblood total cholesterol level (CMO:0000051)57535277875352779Human
406922684GWAS571660_Hlow density lipoprotein cholesterol measurement QTL GWAS571660 (human)1e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)57535277875352779Human
407140682GWAS789658_Hvery low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS789658 (human)5e-11very low density lipoprotein cholesterol measurement, esterified cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)57535277875352779Human
406988077GWAS637053_Hlow density lipoprotein cholesterol measurement QTL GWAS637053 (human)7e-19low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)57535277875352779Human


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
GWAS571660_H GCST010060 Cholesterol 6,840 Korean ancestry individuals T 0.4758 1E-9 9 rs12654264 2.625 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:31902109
GWAS637053_H GCST008037 Low density lipoprotein cholesterol levels 9,720 African American individuals, 17,373 Hispanic/Latino individuals, 2,316 Asian ancestry individuals, 1,900 Native Hawaiian ancestry individuals, 591 Native American ancestry individuals, 321 individuals ? NR 7E-19 18.155 rs12654264 2.815698 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:31217584
GWAS640502_H GCST008045 Total cholesterol levels 10,137 African American individuals, 17,802 Hispanic/Latino individuals, 2,387 Asian ancestry individuals, 1,915 Native Hawaiian ancestry individuals, 604 Native American ancestry individuals, 340 individuals ? NR 7E-20 19.155 rs12654264 3.227735 total cholesterol measurement (EFO:0004574)
 PMID:31217584
GWAS662791_H GCST007442 Low density lipoprotein cholesterol levels 6,949 Korean ancestry individuals ? NR 0.000001 6 rs12654264 N/A low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:30718733
GWAS672055_H GCST001233 Metabolite levels 12,545 Korean ancestry individuals T 0.48 1E-20 20 rs12654264 2.7106 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:21909109
None Available GCST000134 LDL cholesterol 2,758 European ancestry individuals T 0.39 1E-20 20 rs12654264 0.1 low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:18193044
GWAS777458_H GCST90302101 Triglycerides in small LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5859 2E-19 18.699 rs12654264 0.0364 triglycerides in small LDL measurement (EFO:0022323)
 PMID:38448586
GWAS788736_H GCST90302053 Triglycerides in medium LDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5868 1E-18 18 rs12654264 0.0352 triglycerides in medium LDL measurement (EFO:0022322)
 PMID:38448586
GWAS789658_H GCST90302140 Cholesterol esters in very large VLDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals A 0.5857 5E-11 10.302 rs12654264 0.0265 very low density lipoprotein cholesterol measurement (EFO:0008317)
esterified cholesterol measurement (EFO:0008589)
 PMID:38448586
GWAS832367_H GCST90140948 Total cholesterol levels 22,000 Pakistani and Bangladeshi ancestry individuals T 0.58 3E-7 6.523 rs12654264 0.06 total cholesterol measurement (EFO:0004574)
 PMID:35945198
Database Acc Id Source(s)
GWAS Catalog GCST90302140 GWAS Catalog

RGD Curation Notes
Note Type Note Reference