GWAS1316613_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1316613_H (cystatin C measurement QTL GWAS1316613 (human)) Homo sapiens

Symbol: GWAS1316613_H
Name: cystatin C measurement QTL GWAS1316613 (human)
RGD ID: 597220539
Trait: cystatin C measurement
Measurement Type: blood cystatin C level   (CMO:0002777)    
LOD Score: Not Available
P Value: 6.0E-15
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh382031,527,720 - 31,527,721RGD_MAPPER_PIPELINEGRCh38
GRCh372030,115,523 - 30,115,524RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model




Clinical Measurement
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1316613_HHumanblood cystatin C level  IAGPrs45565536405850206 GWAS_CATALOGPMID:33462484

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1316613_HHumancystatin C measurement  IAGPrs45565536405850206 GWAS_CATALOGPMID:33462484

#
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


The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
1319013HM13histocompatibility minor 13203151444231569543Human


Peak: (rs45565536)
Human AssemblyChrPosition (strand)Source
GRCh382031,527,720 - 31,527,721RGD_MAPPER_PIPELINE


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597220539GWAS1316613_Hcystatin C measurement QTL GWAS1316613 (human)6e-15cystatin C measurementblood cystatin C level (CMO:0002777)203152772031527721Human
597432255GWAS1528329_Hprotein measurement QTL GWAS1528329 (human)4e-54protein measurement203152772031527721Human
597087194GWAS1183268_Hbody mass index QTL GWAS1183268 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)203152772031527721Human
597329271GWAS1425345_Hbody mass index QTL GWAS1425345 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)203152772031527721Human



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
GWAS1316613_H GCST90019504 Cystatin C levels 342,399 European ancestry individuals, 6,015 African ancestry individuals, 7,338 South Asian ancestry individuals A NR 6E-15 14.222 rs45565536 0.0502 cystatin C measurement (EFO:0004617)
 PMID:33462484
GWAS1183268_H GCST009871 Body mass index 457,822 European ancestry individuals ? NR 2E-9 8.699 rs45565536 N/A body mass index (EFO:0004340)
 PMID:31669095
GWAS1425345_H GCST90301650 Body mass index 441,761 European ancestry individuals G NR 3E-9 8.523 rs45565536 0.0304687 body mass index (EFO:0004340)
 PMID:37280435
GWAS1528329_H GCST90427550 Ectonucleoside triphosphate diphosphohydrolase 6 levels 3,506 European ancestry individuals A 0.0204466 4E-54 53.398 rs45565536 1.282 protein measurement (EFO:0004747)
 PMID:39528825
Database
Acc Id
Source(s)
GWAS Catalog GCST90019504 GWAS Catalog

Note Type Note Reference