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QTL: GWAS1241209_H (systolic blood pressure QTL GWAS1241209 (human)) Homo sapiens

Symbol:

GWAS1241209_H

Name:

systolic blood pressure QTL GWAS1241209 (human)

RGD ID:

597145135

Trait:

systolic blood pressure

Measurement Type:

systolic blood pressure (CMO:0000004)

LOD Score:

Not Available

P Value:

4.0E-6

Variance:

Not Available

Position

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh38	6	13,162,099 - 13,162,100	RGD_MAPPER_PIPELINE	GRCh38
GRCh37	6	13,162,331 - 13,162,332	RGD_MAPPER_PIPELINE	GRCh37

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)
GWAS1241209_H	Human	systolic blood pressure		IAGP	rs1223546	405850206		GWAS_CATALOG	PMID:36718908

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GWAS1241209_H	Human	systolic blood pressure		IAGP	rs1223546	405850206		GWAS_CATALOG	PMID:36718908

#	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.

RGD ID	Symbol	Name	Chr	Start	Stop	Species
1353173	PHACTR1	phosphatase and actin regulator 1	6	12716767	13287837	Human

Peak: (rs1223546)

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	13,162,099 - 13,162,100	RGD_MAPPER_PIPELINE

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2289408	BW324_H	Body weight QTL 324 (human)	3.15	0.0001	Body fat amount		6	1	20803913	Human
1358854	MULTSCL4_H	Multiple sclerosis susceptibility QTL 4 (human)			Multiple sclerosis susceptibility		6	6911960	32911960	Human
1643418	BW282_H	Body Weight QTL 282 (human)	2.07	0.001	Body weight		6	1	19321359	Human
1643377	BW325_H	Body weight QTL 325 (human)	2.32	0.0005	Body fat amount		6	6911960	32911960	Human
1643569	GLUCO21_H	Glucose level QTL 21 (human)		0.021	Glucose level	non-insulin-dependent	6	6911960	32911960	Human
597145135	GWAS1241209_H	systolic blood pressure QTL GWAS1241209 (human)		0.000004	systolic blood pressure	systolic blood pressure (CMO:0000004)	6	13162099	13162100	Human
2289435	BMD4_H	Bone mineral density QTL 4 (human)	3.15	0.0001	Bone mineral density		6	1	20803913	Human
1298458	BW9_H	Body weight QTL 9 (human)	2.7	0.0002	Body fat amount		6	6911960	32911960	Human
2292824	PRSTS5_H	Prostate tumor susceptibility QTL 5 (human)			Prostate tumor susceptibility		6	1	19232373	Human
2289320	BW390_H	Body weight QTL 390 (human)	2.13		Body weight	BMI	6	1	19321359	Human
1643495	BW291_H	Body Weight QTL 291 (human)	2.13		Body weight	BMI	6	1	19321359	Human
1643399	BMD5_H	Bone mineral density QTL 5 (human)	2.32	0.0005	Bone mineral density		6	6911960	32911960	Human

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
GWAS1241209_H	GCST90269917	Childhood median systolic blood pressure percentile (0-3 years old)	2,859 Black or European ancestry individuals	T	0.82	0.000004	5.398	rs1223546	2.81	systolic blood pressure (EFO:0006335)	PMID:36718908

Database	Acc Id	Source(s)
GWAS Catalog	GCST90269917	GWAS Catalog

Note Type	Note	Reference

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
		Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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QTL: GWAS1241209_H (systolic blood pressure QTL GWAS1241209 (human)) Homo sapiens