GWAS842340_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS842340_H (aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS842340 (human)) Homo sapiens

Symbol: GWAS842340_H
Name: aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS842340 (human)
RGD ID: 407193364
Trait: aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement
Measurement Type: blood aspartate aminotransferase activity level   (CMO:0000580)    
blood high density lipoprotein cholesterol level   (CMO:0000052)    
blood low density lipoprotein triglyceride level   (CMO:0002687)    
body fat percentage   (CMO:0000302)    
serum alanine aminotransferase activity level   (CMO:0000575)    
LOD Score: Not Available
P Value: 5.0E-11
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381552,790,284 - 52,790,285RGD_MAPPER_PIPELINEGRCh38
GRCh371553,082,481 - 53,082,482RGD_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)
GWAS842340_HHumanblood aspartate aminotransferase activity level  IAGPrs2456523405850206Based on the EFO term IDGWAS_CATALOGPMID:33980691
GWAS842340_HHumanblood high density lipoprotein cholesterol level  IAGPrs2456523405850206Based on the EFO term IDGWAS_CATALOGPMID:33980691
GWAS842340_HHumanblood low density lipoprotein triglyceride level  IAGPrs2456523405850206Based on the EFO term IDGWAS_CATALOGPMID:33980691
GWAS842340_HHumanbody fat percentage  IAGPrs2456523405850206Based on the EFO term IDGWAS_CATALOGPMID:33980691
GWAS842340_HHumanserum alanine aminotransferase activity level  IAGPrs2456523405850206Based on the EFO term IDGWAS_CATALOGPMID:33980691

Experimental Factor 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
732947ONECUT1one cut homeobox 1155275505352790336Human

Position Markers

Peak: (rs2456523)
Human AssemblyChrPosition (strand)Source
GRCh381552,790,284 - 52,790,285RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
407193364GWAS842340_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS842340 (human)5e-11aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurementblood high density lipoprotein cholesterol level (CMO:0000052)155279028452790285Human
407167334GWAS816310_Hsex hormone-binding globulin measurement QTL GWAS816310 (human)1e-22sex hormone-binding globulin measurement155279028452790285Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
407222672GWAS871648_Hinsomnia QTL GWAS871648 (human)3e-08insomnia155279028452790285Human
407169186GWAS818162_Hbody fat percentage QTL GWAS818162 (human)1e-11body fat percentagebody fat percentage (CMO:0000302)155279028452790285Human
407340431GWAS989407_Hinsomnia QTL GWAS989407 (human)5e-08insomnia155279028452790285Human
407354205GWAS1003181_Heducational attainment QTL GWAS1003181 (human)8e-10educational attainment155279028452790285Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human


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
GWAS816310_H GCST90020234 Sex hormone-binding globulin levels 389,354 European ancestry individuals G 0.26 1E-22 22 rs2456523 0.021 sex hormone-binding globulin measurement (EFO:0004696)
 PMID:33980691
GWAS818162_H GCST90020232 Body fat percentage 442,278 European ancestry individuals G 0.26 1E-11 11 rs2456523 0.011 body fat percentage (EFO:0007800)
 PMID:33980691
GWAS842340_H GCST90038594 Metabolic biomarkers (multivariate analysis) 389,354 European ancestry individuals G 0.26 5E-11 10.302 rs2456523 N/A aspartate aminotransferase measurement (EFO:0004736)
serum alanine aminotransferase measurement (EFO:0004735)
low density lipoprotein triglyceride measurement (EFO:0009946)
body fat percentage (EFO:0007800)
More... 		PMID:33980691
GWAS871648_H GCST90131903 Insomnia 390,751 European ancestry female cases, 1,018,386 European ancestry female controls T NR 3E-8 7.523 rs2456523 0.008 insomnia (EFO:0004698)
 PMID:35835914
GWAS989407_H GCST90131901 Insomnia 593,724 European ancestry cases, 1,771,286 European ancestry controls T NR 5E-8 7.302 rs2456523 0.006 insomnia (EFO:0004698)
 PMID:35835914
GWAS1003181_H GCST90105038 Educational attainment 3,037,499 European ancestry individuals T 0.7463 8E-10 9.097 rs2456523 0.00739876 educational attainment (EFO:0011015)
 PMID:35361970
Database Acc Id Source(s)
GWAS Catalog GCST90038594 GWAS Catalog

RGD Curation Notes
Note Type Note Reference