rs4065275
This variant is located in the ORMDL3 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
natural cytotoxicity triggering receptor 1 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 4.0e-31
N 47,745
Large GWAS
European
serum gamma-glutamyl transferase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 3.0e-10
N 477,575
Large GWAS
multi-ancestry
QRS duration
Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.02
p 2.0e-8
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
About ORMDL3
Involved in ceramide metabolic process. Acts upstream of or within several processes, including negative regulation of B cell apoptotic process; negative regulation of ceramide biosynthetic process; and positive regulation of protein localization to nucleus. Located in endoplasmic reticulum. Part of serine palmitoyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]
View all ORMDL3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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