rs126280

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GWAS Catalog Trait Associations (1)

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

cleft lip

Dack K et al. “Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.” Human Molecular Genetics 34(23):1934-1950 (2025)
Allele A
OR 1.49
p 2.0e-8
N 8,443
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic variants in IRF6 and the risk of facial clefts: single‐marker and haplotype‐based analyses in a population‐based case‐control study of facial clefts in Norway
AssociationN=1,336Astanand Jugessur et al.(2008)· Genetic Epidemiology

Population-based case-control study in Norway examining six SNPs in the IRF6 gene and facial cleft risk. Strong associations found with cleft lip/palate (CL/P) but not cleft palate only (CPO). Maternal rs4844880 double-dose showed increased CL/P risk (RR=1.85, p=0.036). The p.V274I polymorphism (rs2235371) showed protective effect with single-dose (RR=0.38, p=0.031) but increased risk with double-dose (RR=7.25, p=0.026).

Traits studied:Cleft lip with or without cleft palate (CL/P)Cleft palate only (CPO)Facial clefts
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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