rs17820943

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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

Huang L et al. “Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.” Plos Genetics 15(10):e1008357 (2019)
Allele C
OR 1.42
p 2.0e-17
N 5,993
Large GWAS
East Asian
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Research that mentions this SNP (2)

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Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants inPAX7andVAX1in the Etiology of Nonsyndromic CL(P)
AssociationN=5,421Azeez Butali et al.(2013)· American Journal of Medical Genetics Part A

This replication study investigated common and rare variants in PAX7 and VAX1 genes associated with non-syndromic cleft lip with or without palate (CL(P)). Using TDT analysis in case-parent triads and family-based sequencing of 1,326 individuals from four populations, the study confirmed strong associations with VAX1 markers rs7078160 (p=7.4E-09 in combined samples) and rs4752028 (p=9.8E-06), replicated previous GWAS findings in Asian populations, and identified eight rare missense mutations in PAX7 and two in VAX1 that may contribute to CL(P) etiology.

Traits studied:Cleft lip onlyCleft palate onlyNon-syndromic cleft lip with or without cleft palate
PubMedDOIMetascience Observatory
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Association between single‐nucleotide polymorphisms on chromosome 1p22 and 20q12 and nonsyndromic cleft lip with or without cleft palate: New data in Han Chinese and meta‐analysis
Meta-analysisN=2,087Enmin Huang et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology

This replication and meta-analysis study confirmed that SNPs on chromosome 20q12 (rs6072081, rs13041247, rs6102085) are significantly associated with reduced risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Han Chinese populations, with protective effects (OR 0.62-0.72). However, rs560426 on chromosome 1p22 showed inconsistent associations across populations. A meta-analysis of 676 cases and 740 controls found rs13041247 C allele strongly protective (pooled OR 0.63, 95% CI 0.57-0.69) while rs560426 showed only marginal increased risk (pooled OR 1.23, 95% CI 1.04-1.47, p=0.02).

Traits studied:Nonsyndromic cleft lip only (NSCLO)Nonsyndromic cleft lip with cleft palate (NSCLP)Nonsyndromic cleft lip with or without cleft palate (NSCL/P)
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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