rs7632427

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GWAS Catalog Trait Associations (2)

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

orofacial cleft

Ludwig KU et al. “Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.” Nature Genetics 44(9):968-71 (2012)
Allele T
OR 1.37
p 4.0e-8
N 2,383
Large GWAS
multi-ancestry

atrial fibrillation

Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele T
OR 1.04
p 1.0e-8
N 588,190
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans
AssociationN=3,436Jia Z. et al.(2015)· American Journal of Medical Genetics Part A

This replication study confirms the association between rs8001641 (13q31.1, near SPRY2) and nonsyndromic cleft lip with cleft palate (NSCLP) in European populations (p=4.02×10⁻⁵, OR=1.86, 95% CI: 1.38-2.52). In 946 pedigrees from four ancestral populations (US, Danish, Japanese, Mongolian), the authors genotyped six candidate SNPs from prior GWA meta-analyses and sequenced conserved regions near rs8001641, identifying novel rare variants with potential transcription factor binding effects.

Traits studied:Nonsyndromic cleft lip only (NSCLO)Nonsyndromic cleft lip with cleft palate (NSCLP)Nonsyndromic cleft lip with or without palate (NSCL/P)Nonsyndromic cleft palate only (NSCPO)
PubMedDOIMetascience Observatory
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Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians
AssociationN=993Jane C. Figueiredo et al.(2014)· American Journal of Medical Genetics Part A

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

Traits studied:Cleft lip with or without cleft palateNon-syndromic cleft lipNon-syndromic cleft palateOrofacial 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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