rs41268753

This is a variant in the GRHL3 gene that changes a threonine to an methionine.

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GWAS Catalog Trait Associations (1)

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

Cleft palate

Leslie EJ et al. “A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.” American Journal of Human Genetics 98(4):744-54 (2016)

Allele T

OR 6.34

p 3.0e-8

N 1,816

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

Van der Woude syndrome 2 (VWS2)

View on ClinVar →

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Research that mentions this SNP (1)

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The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese population

ReviewXi Shen et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology

This narrative review examines the genetics of cleft lip with or without cleft palate (CLP) and cleft palate only (CP), which affect approximately 1 in 700 to 1 in 2,000 births worldwide. The paper discusses over 300 genes implicated in palatal fusion, with recent discoveries including variants in VAX1, GLI2, ARHGAP29, CRISPLD2, COL21A1, TBX22, ROCK1, GRHL3, and HYAL2. Key rsID associations identified include rs3821949 (MSX1), rs12532 (MSX1), rs17563 (BMP4), rs4783099, rs1546124, and rs16974880. The review emphasizes the multifactorial etiology involving both genetic and environmental factors in embryonic facial development.

Traits studied:AnkyloglossiaCleft lip with or without cleft palate (CLP)Cleft palate only (CP)Corpus callosum agenesisHypodontiaMicrophthalmiaNon-syndromic cleft lip and palateSyndromic cleftsTooth agenesisVan der Woude Syndrome

PubMed DOI Metascience Observatory

About GRHL3

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]