GWAS1418646_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1418646_H (cup-to-disc ratio measurement QTL GWAS1418646 (human)) Homo sapiens

Symbol: GWAS1418646_H
Name: cup-to-disc ratio measurement QTL GWAS1418646 (human)
RGD ID: 597322572
Trait: cup-to-disc ratio measurement
LOD Score: Not Available
P Value: 2.0E-22
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3861,983,206 - 1,983,207RGD_MAPPER_PIPELINEGRCh38
GRCh3761,983,440 - 1,983,441RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1418646_HHumancup-to-disc ratio measurement  IAGPrs6914444405850206 GWAS_CATALOGPMID:34077760

#
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
1322234GMDSGDP-mannose 4,6-dehydratase616238062245605Human


Peak: (rs6914444)
Human AssemblyChrPosition (strand)Source
GRCh3861,983,206 - 1,983,207RGD_MAPPER_PIPELINE


1 to 10 of 10 rows
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
597035958GWAS1132032_Hglaucoma QTL GWAS1132032 (human)4e-21glaucoma619832061983207Human
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
597322572GWAS1418646_Hcup-to-disc ratio measurement QTL GWAS1418646 (human)2e-22cup-to-disc ratio measurement619832061983207Human
597323565GWAS1419639_Hcup-to-disc ratio measurement QTL GWAS1419639 (human)1e-21cup-to-disc ratio measurement619832061983207Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
2292824PRSTS5_HProstate tumor susceptibility QTL 5 (human)Prostate tumor susceptibility6119232373Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
406917642GWAS566618_Hintraocular pressure measurement QTL GWAS566618 (human)2e-14intraocular pressure measurement619832061983207Human
1643495BW291_HBody Weight QTL 291 (human)2.13Body weightBMI6119321359Human

1 to 10 of 10 rows


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
GWAS1418646_H GCST90129627 Vertical cup-disc ratio 89,579 European ancestry individuals T NR 2E-22 21.699 rs6914444 0.0701 cup-to-disc ratio measurement (EFO:0006939)
 PMID:34077760
GWAS566618_H GCST009725 Intraocular pressure 133,492 European ancestry individuals T 0.86 2E-14 13.699 rs6914444 N/A intraocular pressure measurement (EFO:0004695)
 PMID:31959993
GWAS1132032_H GCST009722 Glaucoma (multi-trait analysis) 133,492 European ancestry individuals with intraocular pressure measurements, 90,939 European ancestry individuals with vertical cup-disc ratio measurements, 7,947 British ancestry glaucoma cases, 119,318 British ancestry controls T 0.86 4E-21 20.398 rs6914444 1.16 PMID:31959993
GWAS1419639_H GCST90129592 Vertical cup-disc ratio 65,680 European ancestry individuals T 0.866 1E-21 21 rs6914444 0.0093 cup-to-disc ratio measurement (EFO:0006939)
 PMID:34077760
Database
Acc Id
Source(s)
GWAS Catalog GCST90129627 GWAS Catalog

Note Type Note Reference