rs8072532
This variant is located in the SMG6 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.
diverticular disease
▶Research that mentions this SNP (1)
▶Two novel pleiotropic loci associated with osteoporosis and abdominal obesityMeta-analysisN=11,496Lu Liu et al.(2020)· Human Genetics
A bivariate GWAS meta-analysis of 11,496 participants from six cohorts identified four loci associated with both femoral neck BMD and trunk fat mass at genome-wide significance, including 1p21 (rs12409479, p=3.63×10⁻⁹), 5q14 (rs36088869, p=4.05×10⁻⁸), 8q21 (rs2091921, p=3.03×10⁻⁹), and 18p11 (rs78202598, p=1.33×10⁻⁸). Two novel pleiotropic loci at 10p14 (rs2892347, p=2.63×10⁻⁷) and 12q15 (rs73134637, p=3.45×10⁻⁷) were identified. Fine-mapping and functional studies highlighted rs11254759 near PRKCQ, with luciferase reporter assays confirming its role in regulating PRKCQ expression, and mouse models showing PRKCQ deficiency mice have decreased fat mass (p=3.30×10⁻³).
About SMG6
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
View all SMG6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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