GWAS1416374_H QTL Report (Homo sapiens) - Rat Genome Database
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Summary
Annotation
Imported Disease - GWAS
Phenotype
Imported Human Phenotype -
Experimental Factor
References
References - curated
Region
Genes in Region
Position Markers
QTLs in Region (GRCh38)
Additional Information
GWAS QTLs Related by Peak
External Database Links
RGD Curation Notes
QTL Registration
General
QTL: GWAS1416374_H (otosclerosis QTL GWAS1416374 (human)) Homo sapiens
Symbol:
GWAS1416374_H
Name:
otosclerosis QTL GWAS1416374 (human)
RGD ID:
597320300
Trait:
otosclerosis
LOD Score:
Not Available
P Value:
5.0E-8
Variance:
Not Available
Position
Human Assembly
Chr
Position (strand)
Source
JBrowse
GRCh38
20
46,941,020 - 46,941,021
RGD_MAPPER_PIPELINE
GRCh38
GRCh37
20
45,569,659 - 45,569,660
RGD_MAPPER_PIPELINE
GRCh37
Population Stats:
Not Available
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Summary View
Imported Disease Annotations - GWAS Catalog
1 to 1 of 1 rows
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1416374_H
Human
otosclerosis
IAGP
rs6066131
405850206
GWAS_CATALOG
PMID:36653343
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Phenotype Annotations
Click to see Annotation Summary View
Imported Human Phenotype Annotations - HPO
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1416374_H
Human
Otosclerosis
IAGP
rs6066131
405850206
GWAS_CATALOG
PMID:36653343
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Experimental Factor Annotations
Click to see Annotation Summary View
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1416374_H
Human
otosclerosis
IAGP
rs6066131
405850206
GWAS_CATALOG
PMID:36653343
1 to 1 of 1 rows
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20
30
40
100
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Disease Annotations
Click to see Annotation Summary View
1 to 1 of 1 rows
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20
30
40
100
All Rows
otosclerosis
(IAGP)
1 to 1 of 1 rows
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20
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100
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Phenotype Annotations
Click to see Annotation Summary View
Human Phenotype
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All Rows
Otosclerosis
(IAGP)
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References
References - curated
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#
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
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Region
Genes in Region
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The following
Genes
overlap with this region.
Full Report
CSV
TAB
Printer
Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
1350703
EYA2
EYA transcriptional coactivator and phosphatase 2
20
46894843
47188844
Human
1 to 1 of 1 rows
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Position Markers
Peak: (
rs6066131
)
Human Assembly
Chr
Position (strand)
Source
GRCh38
20
46,941,020 - 46,941,021
RGD_MAPPER_PIPELINE
QTLs in Region (GRCh38)
1 to 3 of 3 rows
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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
1300007
BP29_H
Blood pressure QTL 29 (human)
Blood pressure
hypertension susceptibility
20
36536005
62536005
Human
597320300
GWAS1416374_H
otosclerosis QTL GWAS1416374 (human)
5e-08
otosclerosis
20
46941020
46941021
Human
597055641
GWAS1151715_H
BMI-adjusted waist-hip ratio QTL GWAS1151715 (human)
4e-32
body size trait (VT:0100005)
20
46941020
46941021
Human
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Additional Information
GWAS QTLs Related by Peak Marker
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Data has come from the GWAS Catalog
Download
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
GWAS1416374_H
GCST90129575
Otosclerosis
3,504 European ancestry cases, 861,198 European ancestry controls
C
0.45
5E-8
7.302
rs6066131
1.14
otosclerosis
(EFO:0004213)
PMID:
36653343
GWAS1151715_H
GCST009858
Waist-to-hip ratio adjusted for BMI
457,690 European ancestry individuals
?
NR
4E-32
31.398
rs6066131
N/A
BMI-adjusted waist-hip ratio
(EFO:0007788)
PMID:
31669095
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External Database Links
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5
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Database
Acc Id
Source(s)
GWAS Catalog
GCST90129575
GWAS Catalog
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RGD Curation Notes
Note Type
Note
Reference