GWAS1260395_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: GWAS1260395_H (hypothyroidism QTL GWAS1260395 (human)) Homo sapiens
Symbol:
GWAS1260395_H
Name:
hypothyroidism QTL GWAS1260395 (human)
RGD ID:
597164321
Trait:
hypothyroidism
LOD Score:
Not Available
P Value:
2.0E-9
Variance:
Not Available
Position
Human Assembly
Chr
Position (strand)
Source
JBrowse
GRCh38
1
236,465,834 - 236,465,835
RGD_MAPPER_PIPELINE
GRCh38
GRCh37
1
236,629,134 - 236,629,135
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)
GWAS1260395_H
Human
hypothyroidism
IAGP
rs12117927
405850206
GWAS_CATALOG
PMID:34594039
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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)
GWAS1260395_H
Human
Hypothyroidism
IAGP
rs12117927
405850206
GWAS_CATALOG
PMID:34594039
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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)
GWAS1260395_H
Human
hypothyroidism
IAGP
rs12117927
405850206
GWAS_CATALOG
PMID:34594039
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
10
20
30
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100
All Rows
hypothyroidism
(IAGP)
1 to 1 of 1 rows
10
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Phenotype Annotations
Click to see Annotation Summary View
Human Phenotype
1 to 1 of 1 rows
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Hypothyroidism
(IAGP)
1 to 1 of 1 rows
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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
1351297
EDARADD
EDAR associated via death domain
1
236348259
236484930
Human
1 to 1 of 1 rows
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20
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Position Markers
Peak: (
rs12117927
)
Human Assembly
Chr
Position (strand)
Source
GRCh38
1
236,465,834 - 236,465,835
RGD_MAPPER_PIPELINE
QTLs in Region (GRCh38)
1 to 6 of 6 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
597279886
GWAS1375960_H
hypothyroidism QTL GWAS1375960 (human)
1e-10
hypothyroidism
1
236465834
236465835
Human
597081966
GWAS1178040_H
autoimmune thyroid disease QTL GWAS1178040 (human)
2e-11
autoimmune thyroid disease
1
236465834
236465835
Human
597278672
GWAS1374746_H
hypothyroidism QTL GWAS1374746 (human)
1e-11
hypothyroidism
1
236465834
236465835
Human
597164321
GWAS1260395_H
hypothyroidism QTL GWAS1260395 (human)
2e-09
hypothyroidism
1
236465834
236465835
Human
596979848
GWAS1099367_H
hypothyroidism QTL GWAS1099367 (human)
1e-10
hypothyroidism
1
236465834
236465835
Human
597060216
GWAS1156290_H
hypothyroidism QTL GWAS1156290 (human)
4e-09
hypothyroidism
1
236465834
236465835
Human
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Additional Information
GWAS QTLs Related by Peak Marker
1 to 5 of 5 rows
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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
GWAS1260395_H
GCST90018862
Hypothyroidism
30,155 European ancestry cases, 379,986 European ancestry controls, 1,114 East Asian ancestry cases, 172,656 East Asian ancestry controls
A
NR
2E-9
8.699
rs12117927
0.0627
hypothyroidism
(EFO:0004705)
PMID:
34594039
GWAS1156290_H
GCST007073
Hypothyroidism
approximately 459,000 European ancestry individuals
?
NR
4E-9
8.398
rs12117927
N/A
hypothyroidism
(EFO:0004705)
PMID:
30595370
GWAS1178040_H
GCST010571
Autoimmune thyroid disease
30,234 European ancestry cases, 724,172 European ancestry controls
A
0.484
2E-11
10.699
rs12117927
1.06
autoimmune thyroid disease
(EFO:0006812)
PMID:
32581359
GWAS1374746_H
GCST90204167
Hypothyroidism
51,194 European ancestry cases, 443,383 European ancestry controls
A
NR
1E-11
11
rs12117927
0.0558823
hypothyroidism
(EFO:0004705)
PMID:
36093044
GWAS1375960_H
GCST90319320
Hypothyroidism
58,783 European ancestry cases, 633,203 European ancestry controls
A
NR
1E-10
10
rs12117927
1.05
hypothyroidism
(EFO:0004705)
PMID:
39067062
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External Database Links
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Database
Acc Id
Source(s)
GWAS Catalog
GCST90018862
GWAS Catalog
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RGD Curation Notes
Note Type
Note
Reference