GWAS1153230_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS1153230_H (Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153230 (human)) Homo sapiens

Symbol: GWAS1153230_H
Name: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153230 (human)
RGD ID: 597057156
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
GRCh38108,623,184 - 8,623,185RGD_MAPPER_PIPELINEGRCh38
GRCh37108,665,147 - 8,665,148RGD_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

Position Markers

Peak: (rs4454616)
Human AssemblyChrPosition (strand)Source
GRCh38108,623,184 - 8,623,185RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597057156GWAS1153230_HCleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153230 (human)0.000009Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement1086231848623185Human


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
GWAS1153230_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 rs4454616 3.06 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