GWAS596773_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS596773_H (Mastocytosis QTL GWAS596773 (human)) Homo sapiens

Symbol: GWAS596773_H
Name: Mastocytosis QTL GWAS596773 (human)
RGD ID: 406947797
Trait: Mastocytosis
LOD Score: Not Available
P Value: 9.0E-8
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38639,927,524 - 39,927,525RGD_MAPPER_PIPELINEGRCh38
GRCh37639,895,263 - 39,895,264RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Disease Annotations     Click to see Annotation Detail View
mastocytosis  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Mastocytosis  (IAGP)
References

References - curated
# 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

Region

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
1318258MOCS1molybdenum cofactor synthesis 163990417039934462Human

Position Markers

Peak: (rs45487695)
Human AssemblyChrPosition (strand)Source
GRCh38639,927,524 - 39,927,525RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
406947698GWAS596674_Hsystemic mastocytosis QTL GWAS596674 (human)5e-08systemic mastocytosis63992752439927525Human
406947797GWAS596773_HMastocytosis QTL GWAS596773 (human)9e-08Mastocytosis63992752439927525Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human


Additional Information

GWAS QTLs Related by Peak Marker
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
GWAS596674_H GCST011382 Systemic mastocytosis 93 European ancestry cases, 5,606 European ancestry controls T 0.00901 5E-8 7.302 rs45487695 5.593 PMID:32752121
GWAS596773_H GCST011383 Mastocytosis 234 European ancestry cases, 5,606 European ancestry controls T 0.00901 9E-8 7.046 rs45487695 3.893 Mastocytosis (EFO:0009001)
PMID:32752121
Database Acc Id Source(s)
GWAS Catalog GCST011383 GWAS Catalog

RGD Curation Notes
Note Type Note Reference