rs957448
This is a synonymous variant in the VIRMA gene — it does not change the protein's amino acid sequence.
▶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 (1)
▶Association between PTCH1 and RAD54B single‐nucleotide polymorphisms and non‐syndromic orofacial clefts in a northern Chinese populationAssociationN=1,062Xiaotong Liu et al.(2018)· The Journal of Gene Medicine
This case-control association study examined six SNPs (rs10512248 in PTCH1, rs12681366 and rs958447 in RAD54B, rs13317 in FGFR1, rs1838105 and rs4968247 in WNT9B) in 596 NSOC patients and 466 controls from a Northern Chinese population. Two SNPs showed significant associations with non-syndromic orofacial clefts: PTCH1 rs10512248 (P=0.020) and RAD54B rs12681366, where the CT genotype showed decreased NSOC risk (OR=0.62, 95%CI=0.46-0.82, P=0.001). This replication study confirms GWAS findings in a Northern Chinese population and suggests RAD54B rs12681366 plays a protective role against orofacial clefts.
About VIRMA
Enables RNA binding activity. Involved in mRNA processing. Located in RNA N6-methyladenosine methyltransferase complex; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
View all VIRMA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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