rs12603332

This is a regulatory region variant variant in the ORMDL3 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cervical cancer

Koel M et al. “GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.” Human Molecular Genetics 32(12):2103-2116 (2023)
Allele C
OR 0.90
p 2.0e-10
N 409,197
Large GWAS
European
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Research that mentions this SNP (1)

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Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines
FunctionalSoizik Berlivet et al.(2012)· Human Genetics

This functional study examined how genetic and epigenetic factors interact to regulate gene expression at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines. The rs4795397 SNP in the ZPBP2 promoter showed strong allele-dependent effects on promoter activity in vitro (P < 0.01), with the rs4795397-A allele (HapA-associated) showing higher promoter activity and nucleosome repositioning. However, variable DNA methylation of ZPBP2 exon 1 masked the genetic effects in lymphoblastoid cell lines, while the unmethylated ORMDL3 promoter allowed detection of genetic effects.

Traits studied:AsthmaCrohn diseaseRheumatoid arthritisUlcerative colitis
PubMedDOIMetascience Observatory

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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