GWAS542951_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS542951_H (extracellular superoxide dismutase [Cu-Zn] measurement QTL GWAS542951 (human)) Homo sapiens

Symbol: GWAS542951_H
Name: extracellular superoxide dismutase [Cu-Zn] measurement QTL GWAS542951 (human)
RGD ID: 406893975
Trait: extracellular superoxide dismutase [Cu-Zn] measurement
LOD Score: Not Available
P Value: 4E-140
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38424,800,212 - 24,800,213RGD_MAPPER_PIPELINEGRCh38
GRCh37424,801,834 - 24,801,835RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS542951_HHumanextracellular superoxide dismutase [Cu-Zn] measurement  IAGPrs1799895405850206 GWAS_CATALOGPMID:29875488
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
736515SOD3superoxide dismutase 342479557324800842Human
155660679LOC127400453H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:24801347-2480184742479972524800225Human

Position Markers

Peak: (rs1799895)
Human AssemblyChrPosition (strand)Source
GRCh38424,800,212 - 24,800,213RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407287157GWAS936133_Hsuperoxide dismutase [Cu-Zn] measurement QTL GWAS936133 (human)2e-99superoxide dismutase [Cu-Zn] measurement42480021224800213Human
406893975GWAS542951_Hextracellular superoxide dismutase [Cu-Zn] measurement QTL GWAS542951 (human)4e-140extracellular superoxide dismutase [Cu-Zn] measurement42480021224800213Human
407362768GWAS1011744_Hcreatinine measurement QTL GWAS1011744 (human)2e-13creatinine measurementblood creatinine measurement (CMO:0000767)42480021224800213Human
407319583GWAS968559_Hextracellular superoxide dismutase [Cu-Zn] measurement QTL GWAS968559 (human)9e-204extracellular superoxide dismutase [Cu-Zn] measurement42480021224800213Human
406946504GWAS595480_Hprotein measurement QTL GWAS595480 (human)1e-14protein measurement42480021224800213Human
407205246GWAS854222_Hblood protein measurement QTL GWAS854222 (human)3e-21blood protein measurementblood protein measurement (CMO:0000028)42480021224800213Human
407168761GWAS817737_Hblood protein measurement QTL GWAS817737 (human)4e-13blood protein measurementblood protein measurement (CMO:0000028)42480021224800213Human
407204840GWAS853816_Hblood protein measurement QTL GWAS853816 (human)5e-33blood protein measurementblood protein measurement (CMO:0000028)42480021224800213Human
406972703GWAS621679_Hprotein measurement QTL GWAS621679 (human)1e-413protein measurement42480021224800213Human


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
GWAS542951_H GCST90241133 Extracellular superoxide dismutase [Cu-Zn] levels (SOD3.8463.2.3) 3,301 European ancestry individuals G 0.016 4E-140 139.398 rs1799895 2.3 extracellular superoxide dismutase [Cu-Zn] measurement (EFO:0022018)
 PMID:29875488
GWAS595480_H GCST90249079 Protein phosphatase 1D levels 10,708 European ancestry individuals C 0.99 1E-14 14 rs1799895 0.44 protein measurement (EFO:0004747)
 PMID:34648354
GWAS621679_H GCST90247197 Extracellular superoxide dismutase [Cu-Zn] levels 10,708 European ancestry individuals C 0.99 1E-413 413 rs1799895 2.189 protein measurement (EFO:0004747)
 PMID:34648354
GWAS817737_H GCST90089620 Serum levels of protein VNN2 5,367 Icelandic ancestry individuals G 0.02095 4E-13 12.398 rs1799895 0.487752 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS853816_H GCST90089349 Serum levels of protein PLBD1 5,365 Icelandic ancestry individuals G 0.02095 5E-33 32.302 rs1799895 0.783918 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS854222_H GCST90089916 Serum levels of protein LRFN1 5,348 Icelandic ancestry individuals G 0.02095 3E-21 20.523 rs1799895 0.577826 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS936133_H GCST90137643 Extracellular superoxide dismutase [Cu-Zn] levels 1,852 African American or Afro-Caribbean individuals ? NR 2E-99 98.699 rs1799895 2.54 superoxide dismutase [Cu-Zn] measurement (EFO:0020758)
 PMID:34814699
GWAS968559_H GCST90162499 Extracellular superoxide dismutase [Cu-Zn] levels 2,935 Qatari ancestry individuals G 0.0405451 9E-204 203.046 rs1799895 2.03785 extracellular superoxide dismutase [Cu-Zn] measurement (EFO:0022018)
 PMID:36168886
GWAS1011744_H GCST90018979 Serum creatinine levels 344,104 European ancestry individuals, 150,266 East Asian ancestry individuals G NR 2E-13 12.699 rs1799895 0.0654 creatinine measurement (EFO:0004518)
 PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90241133 GWAS Catalog

RGD Curation Notes
Note Type Note Reference