rs1999263
This is a regulatory region variant variant in the HSDL2 gene.
▶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.
level of hydroxysteroid dehydrogenase-like protein 2 in blood serum
▶Research that mentions this SNP (1)
▶Follow‐up association studies of chromosome region 9q and nonsyndromic cleft lip/palateAssociationN=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.
About HSDL2
Predicted to enable oxidoreductase activity. Involved in cholesterol homeostasis. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Jul 2025]
View all HSDL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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