rs192716315

This is a upstream gene variant variant in the SDAD1 gene.

GWAS Catalog Trait Associations (1)

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

Research that mentions this SNP (1)

The dual and opposite role of the TM6SF2‐rs58542926 variant in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver: A meta‐analysis
AssociationN=13,577Carlos J. Pirola et al.(2015)· Hepatology

This doctoral thesis comprises three studies on metabolic syndrome-related traits. Study III is a GWAS identifying seven novel loci associating with circulating inflammatory markers (cytokines and adhesion molecules) in 5,284 Finnish individuals from NFBC1966, with meta-analysis including three additional Finnish populations totaling 13,577 participants. Studies I and II use Mendelian randomization and association analysis to examine metabolic effects of lipid-lowering therapies and NAFLD risk alleles (PNPLA3 rs738409-G, TM6SF2 rs58542926-T, GCKR rs780094-T/rs1260326-T, LYPLAL1 rs12137855-C, and NCAN rs2228603-T).

Traits studied:Cardiovascular diseaseCirculating inflammatory markersCytokines and cell adhesion moleculesIL1-betaIL1-receptor antagonistIL17IL4IL6IL8IP10Lipid metabolismMCP1Metabolic syndromeNon-alcoholic fatty liver disease (NAFLD)Soluble E-selectinSoluble ICAM-1Soluble VCAM-1TNF-alphaType 2 diabetes riskVEGF

About SDAD1

Predicted to be involved in ribosomal large subunit biogenesis and ribosomal large subunit export from nucleus. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all SDAD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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