GWAS1153232_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL: GWAS1153232_H (Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153232 (human)) Homo sapiens

Symbol: GWAS1153232_H
Name: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153232 (human)
RGD ID: 597057158
Trait: Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement
LOD Score: Not Available
P Value: 5.0E-6
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381940,578,787 - 40,578,788RGD_MAPPER_PIPELINEGRCh38
GRCh371941,084,693 - 41,084,694RGD_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
1352927SHKBP1SH3KBP1 binding protein 1194057687340591397Human

Position Markers

Peak: (rs814518)
Human AssemblyChrPosition (strand)Source
GRCh381940,578,787 - 40,578,788RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597057158GWAS1153232_HCleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153232 (human)0.000005Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement194057878740578788Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
597221716GWAS1317790_Hbody height QTL GWAS1317790 (human)2e-18body height (VT:0001253)body height (CMO:0000106)194057878740578788Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human


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
GWAS1153232_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 0.000005 5.302 rs814518 3.35 Cleft palate (HP:0000175)
tobacco smoke exposure measurement (EFO:0009115)
cleft lip (EFO:0003959)
parental genotype effect measurement (EFO:0005939)
PMID:31372216
GWAS1317790_H GCST90245848 Height 5,314,291 European ancestry, Hispanic or Latin American, East Asian ancestry, African ancestry, South Asian ancestry individuals A 0.3095 2E-18 17.699 rs814518 0.0073 obsolete_body height (EFO:0004339)
PMID:36224396
Database Acc Id Source(s)
GWAS Catalog GCST009544 GWAS Catalog

RGD Curation Notes
Note Type Note Reference