rs8049367
This is a downstream gene variant variant.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Cleft palate, cleft lip
▶Research that mentions this SNP (2)
▶Rs2262251 in lncRNA
RP11‐462G12.2
is associated with nonsyndromic cleft lip with/without cleft palateAssociationN=2,573Lu Yun et al.(2019)· Human Mutation
This case-control study identifies rs2262251 (C allele) in lncRNA RP11-462G12.2 as protective against nonsyndromic cleft lip/palate (NSCL/P) with odds ratios ranging from 0.63-0.81 depending on genotype. Functional studies demonstrate that this variant regulates IQSEC2 expression through a miR-744-5p-dependent pathway, suggesting a protective lncRNA-miRNA regulatory axis in cleft development.
▶Gene‐gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non‐syndromic cleft lip with or without cleft palate in Chinese case‐parent triosAssociationN=806Dongjing Liu et al.(2017)· American Journal of Medical Genetics Part A
This case-parent trio study examined 806 Chinese families to test association between SNPs in chromosome 16p13.3 and non-syndromic cleft lip with or without cleft palate (NSCL/P). While no individual SNPs showed significant marginal association after Bonferroni correction, nine SNP-SNP interaction pairs achieved significance, with the strongest interaction between rs2072346 (ADCY9) and rs11646137 (intergenic region, P=7.2×10⁻⁵), suggesting gene-gene interactions contribute to NSCL/P risk in this region.
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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