rs766325

This is a upstream gene variant variant in the PAX7 gene.

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Research that mentions this SNP (1)

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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

About PAX7

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

View all PAX7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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