GWAS801226_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS801226_H (very low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS801226 (human)) Homo sapiens

Symbol: GWAS801226_H
Name: very low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS801226 (human)
RGD ID: 407152250
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: 7.0E-10
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381672,009,647 - 72,009,648RGD_MAPPER_PIPELINEGRCh38
GRCh371672,043,546 - 72,043,547RGD_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)
GWAS801226_HHumanblood very low density lipoprotein cholesterol level  IAGPrs12149380405850206Based on the EFO term IDGWAS_CATALOGPMID:38448586

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS801226_HHumanesterified cholesterol measurement  IAGPrs12149380405850206 GWAS_CATALOGPMID:38448586
GWAS801226_HHumanvery low density lipoprotein cholesterol measurement  IAGPrs12149380405850206 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
68497DHODHdihydroorotate dehydrogenase (quinone)167200874472027659Human

Position Markers

Peak: (rs12149380)
Human AssemblyChrPosition (strand)Source
GRCh381672,009,647 - 72,009,648RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407285628GWAS934604_Hapolipoprotein L1 measurement QTL GWAS934604 (human)6e-22apolipoprotein L1 measurement167200964772009648Human
407152250GWAS801226_Hvery low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS801226 (human)7e-10very low density lipoprotein cholesterol measurement, esterified cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)167200964772009648Human
407197962GWAS846938_Hserum alanine aminotransferase measurement QTL GWAS846938 (human)2e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)167200964772009648Human


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
GWAS801226_H GCST90302152 Cholesterol esters in very small VLDL 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals C 0.7576 7E-10 9.155 rs12149380 0.0284 very low density lipoprotein cholesterol measurement (EFO:0008317)
esterified cholesterol measurement (EFO:0008589)
PMID:38448586
GWAS846938_H GCST90129601 Chronic elevation of alanine aminotransferase (cALT) levels 95,472 European ancestry cases, 68,725 European ancestry controls, 23,977 African American cases, 13,387 African American controls, 7,650 Hispanic cases, 7,468 Hispanic controls, 1,088 Asian ancestry cases, 828 Asian ancestry controls G 0.228 2E-9 8.699 rs12149380 0.048 serum alanine aminotransferase measurement (EFO:0004735)
PMID:35654975
GWAS934604_H GCST90161273 Apolipoprotein L1 levels 2,935 Qatari ancestry individuals G 0.270187 6E-22 21.222 rs12149380 0.291689 apolipoprotein L1 measurement (EFO:0021854)
PMID:36168886
Database Acc Id Source(s)
GWAS Catalog GCST90302152 GWAS Catalog

RGD Curation Notes
Note Type Note Reference