rs4968247

This variant is located in the LRRC37A2 gene.

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GWAS Catalog Trait Associations (1)

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

serum urea amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 2.0e-39
N 394,642
Large GWAS
European
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Research that mentions this SNP (1)

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Association between PTCH1 and RAD54B single‐nucleotide polymorphisms and non‐syndromic orofacial clefts in a northern Chinese population
AssociationN=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.

Traits studied:Non-syndromic orofacial clefts
PubMedDOIMetascience Observatory

About LRRC37A2

Predicted to enable ATP binding activity; ATP hydrolysis activity; and metal ion binding activity. Predicted to be involved in SNARE complex disassembly and protein transport. Predicted to be located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all LRRC37A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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