GWAS1114612_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS1114612_H (Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1114612 (human)) Homo sapiens

Symbol: GWAS1114612_H
Name: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1114612 (human)
RGD ID: 597018538
Trait: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement
LOD Score: Not Available
P Value: 3.0E-6
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38892,633,008 - 92,633,009RGD_MAPPER_PIPELINEGRCh38
GRCh37893,645,236 - 93,645,237RGD_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
16559855AC091096.1novel transcript89256544392655494Human

Position Markers

Peak: (rs10097386)
Human AssemblyChrPosition (strand)Source
GRCh38892,633,008 - 92,633,009RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597018538GWAS1114612_HCleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1114612 (human)0.000003Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement89263300892633009Human


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
GWAS1114612_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 0.000003 5.523 rs10097386 2.86 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