GWAS1153234_H QTL Report (Homo sapiens) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
QTL Registration

QTL: GWAS1153234_H (Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153234 (human)) Homo sapiens

Symbol: GWAS1153234_H
Name: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153234 (human)
RGD ID: 597057160
Trait: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement
LOD Score: Not Available
P Value: 6.0E-6
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38486,331,106 - 86,331,107RGD_MAPPER_PIPELINEGRCh38
GRCh37487,252,259 - 87,252,260RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Disease Annotations     Click to see Annotation Detail View
cleft lip  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cleft lip  (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
733441MAPK10mitogen-activated protein kinase 1048601040586594074Human

Position Markers

Peak: (rs4693142)
Human AssemblyChrPosition (strand)Source
GRCh38486,331,106 - 86,331,107RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597057160GWAS1153234_HCleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153234 (human)0.000006Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement48633110686331107Human


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
GWAS1153234_H GCST009544 Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) 825 European ancestry case-parent duos or trios, 1,024 Asian ancestry case-parent duos or trios, 59 case-parent duos or trios ? NR 0.000006 5.222 rs4693142 0.26 Cleft palate (HP:0000175)
tobacco smoke exposure measurement (EFO:0009115)
cleft lip (EFO:0003959)
parental genotype effect measurement (EFO:0005939)
 PMID:31372216
Database Acc Id Source(s)
GWAS Catalog GCST009544 GWAS Catalog

RGD Curation Notes
Note Type Note Reference