GWAS823908_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS823908_H (cortical surface area measurement QTL GWAS823908 (human)) Homo sapiens

Symbol: GWAS823908_H
Name: cortical surface area measurement QTL GWAS823908 (human)
RGD ID: 407174932
Trait: cerebral cortex morphology trait   (VT:0000788)    
Measurement Type: tibia-fibula cortical bone total cross-sectional area   (CMO:0001721)    
LOD Score: Not Available
P Value: 1.0E-17
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh382035,438,203 - 35,438,204RGD_MAPPER_PIPELINEGRCh38
GRCh372034,025,983 - 34,025,984RGD_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)
GWAS823908_HHumantibia-fibula cortical bone total cross-sectional area  IAGPrs143383405850206Based on the EFO term IDGWAS_CATALOGPMID:34560273

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS823908_HHumancerebral cortex morphology trait  IAGPrs143383405850206Based on the EFO term IDGWAS_CATALOGPMID:34560273

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS823908_HHumancortical surface area measurement  IAGPrs143383405850206 GWAS_CATALOGPMID:34560273
Experimental Data Annotations     Click to see Annotation Detail View

Vertebrate Trait

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
1345266GDF5growth differentiation factor 5203543334735454749Human
38657752LOC109461476GDF5 promoter region203543792935438683Human

Position Markers

Peak: (rs143383)
Human AssemblyChrPosition (strand)Source
GRCh382035,438,203 - 35,438,204RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407174932GWAS823908_Hcortical surface area measurement QTL GWAS823908 (human)1e-17cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)203543820335438204Human
406920612GWAS569588_Hbody height QTL GWAS569588 (human)9e-78body height (VT:0001253)body height (CMO:0000106)203543820335438204Human
407165186GWAS814162_Hbrain measurement QTL GWAS814162 (human)3e-15brain measurementbrain measurement (CMO:0000911)203543820335438204Human
407326401GWAS975377_Hcortical surface area measurement QTL GWAS975377 (human)2e-16cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)203543820335438204Human
407299633GWAS948609_Hbrain measurement QTL GWAS948609 (human)1e-23brain measurementbrain measurement (CMO:0000911)203543820335438204Human
407236178GWAS885154_Hbody height QTL GWAS885154 (human)1e-09body height (VT:0001253)body height (CMO:0000106)203543820335438204Human
406937401GWAS586377_Hprostate carcinoma QTL GWAS586377 (human)1e-12prostate carcinoma203543820335438204Human
407088442GWAS737418_Hosteoarthritis, knee QTL GWAS737418 (human)2e-12osteoarthritis, knee203543820335438204Human
406934906GWAS583882_Hprostate carcinoma QTL GWAS583882 (human)3e-10prostate carcinoma203543820335438204Human
406986380GWAS635356_Hosteoarthritis, knee QTL GWAS635356 (human)0.0000005osteoarthritis, knee203543820335438204Human
407090844GWAS739820_Hosteoarthritis, knee QTL GWAS739820 (human)8e-18osteoarthritis, knee203543820335438204Human


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
GWAS569588_H GCST008839 Height 159,095 Japanese ancestry individuals ? NR 9E-78 77.046 rs143383 0.06367727 body height (EFO:0004339)
 PMID:31562340
GWAS583882_H GCST90274714 Prostate cancer 122,188 European ancestry cases, 604,640 European ancestry controls A 0.617 3E-10 9.523 rs143383 1.04 prostate carcinoma (EFO:0001663)
 PMID:37945903
GWAS586377_H GCST90274713 Prostate cancer 122,188 European ancestry cases, 604,640 European ancestry controls, 19,391 African American or Afro-Caribbean cases, 61,608 African American or Afro-Caribbean controls, 10,809 East Asian ancestry cases, 95,790 East Asian ancestry controls, 3,931 Hispanic or Latin American cases, 26,405 Hispanic or Latin American controls A NR 1E-12 12 rs143383 1.04 prostate carcinoma (EFO:0001663)
 PMID:37945903
GWAS635356_H GCST007090 Knee osteoarthritis 24,955 European ancestry cases, 378,169 European ancestry controls ? NR 5E-7 6.302 rs143383 1.0495905 osteoarthritis, knee (EFO:0004616)
 PMID:30664745
GWAS737418_H GCST90297779 Idiopathic knee osteoarthritis 90,888 European ancestry cases, 263,673 European ancestry controls G 0.38 2E-12 11.699 rs143383 0.96 osteoarthritis, knee (EFO:0004616)
 PMID:37247657
GWAS739820_H GCST006925 Knee osteoarthritis 23,877 European ancestry cases, 562,153 European ancestry controls T 0.64 8E-18 17.097 rs143383 1.09287 osteoarthritis, knee (EFO:0004616)
 PMID:30374069
GWAS814162_H GCST90131906 Whole brain free water diffusion (multivariate analysis) 23,543 European ancestry individuals ? NR 3E-15 14.523 rs143383 N/A brain measurement (EFO:0004464)
 PMID:35505052
GWAS823908_H GCST90091060 Cortical surface area 35,657 White British ancestry individuals G 0.3608 1E-17 17 rs143383 N/A cortical surface area measurement (EFO:0010736)
 PMID:34560273
GWAS885154_H GCST90090967 Height 14,571 Taiwanese Han Chinese ancestry individuals ? NR 1E-9 9 rs143383 0.48 body height (EFO:0004339)
 PMID:34270706
GWAS948609_H GCST90320912 T2 brain MRIs Unsupervised Deep learning derived Imaging Phenotypes (dimension 93) 22,960 British ancestry individuals ? NR 1E-23 23 rs143383 N/A brain measurement (EFO:0004464)
 PMID:38580839
GWAS975377_H GCST90095130 Vertex-wise cortical surface area 33,748 European ancestry individuals G 0.37 2E-16 15.699 rs143383 8.25 cortical surface area measurement (EFO:0010736)
 PMID:34910505
Database Acc Id Source(s)
GWAS Catalog GCST90091060 GWAS Catalog

RGD Curation Notes
Note Type Note Reference