rs894673

This is a upstream gene variant variant in the PTCSC2 gene.

▶

Research that mentions this SNP (1)

▶
Follow‐up association studies of chromosome region 9q and nonsyndromic cleft lip/palate
AssociationN=291Ariadne Letra et al.(2010)· American Journal of Medical Genetics Part A

Fine mapping study of 50 SNPs across chromosome 9q22.3-34.1 in 291 multiplex families from multiple populations identified association with nonsyndromic cleft lip/palate, primarily with STOM (rs306796; P=0.004 in Guatemala, P=0.002 in pooled families, P=0.04 in US). SNPs in PTCH and nearby FOXE1 also showed association, with gene prioritization analysis ranking PTCH and STOM among the top 14 candidate genes in this region.

Traits studied:Cleft lip and palate (CLCLP)Cleft lip only (CLO)Nonsyndromic cleft lip/palate
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…