rs9439714

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GWAS Catalog Trait Associations (3)

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

Cleft palate, 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 C

OR 1.47

p 3.0e-13

N 8,750

Large GWAS

European

Mukhopadhyay N et al. “Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.” Genetic Epidemiology 46(3-4):182-198 (2022)

Allele C

OR 0.24

p 6.0e-9

N 4,891

Large GWAS

multi-ancestry

Orofacial cleft

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 C

OR 1.28

p 4.0e-12

N 10,181

Large GWAS

European

Mukhopadhyay N et al. “Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions.” Frontiers in Cell and Developmental Biology 9:621482 (2021)

Allele C

OR 0.15

p 3.0e-8

N 9,447

Large GWAS

multi-ancestry

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 C

OR 1.44

p 1.0e-14

N 8,997

Large GWAS

European

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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