GWAS1153272_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   

QTL: GWAS1153272_H (Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153272 (human)) Homo sapiens

Symbol: GWAS1153272_H
Name: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153272 (human)
RGD ID: 597057198
Trait: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement
LOD Score: Not Available
P Value: 9.0E-6
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38920,908,514 - 20,908,515RGD_MAPPER_PIPELINEGRCh38
GRCh37920,908,513 - 20,908,514RGD_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
1352316FOCADfocadhesin92065562520995950Human

Position Markers

Peak: (rs2383162)
Human AssemblyChrPosition (strand)Source
GRCh38920,908,514 - 20,908,515RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643245BW137_HBody weight QTL 137 (human)2.28Body weight9528914931289149Human
2302773MAMTS18_HMammary tumor susceptibility QTL 18 (human)0.039Mammary tumor susceptibility9528914931289149Human
1357299AASTH47_HAllergic/atopic asthma related QTL 47 (human)0.00028Reversible airflow obstruction9528914931289149Human
597057198GWAS1153272_HCleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153272 (human)0.000009Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement92090851420908515Human
2315898GLUCO191_HGlucose level QTL 191 (human)1.83Glucose level9528914931289149Human
2293400PRSTS224_HProstate tumor susceptibility QTL 224 (human)1.62Prostate tumor susceptibility9528914931289149Human
2293433PRSTS223_HProstate tumor susceptibility QTL 223 (human)1.6Prostate tumor susceptibility9528914931289149Human


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
GWAS1153272_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 0.000009 5.046 rs2383162 2.73 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