rs10998624
This is a regulatory region variant variant in the SUPV3L1 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.
response to vaccine, cytokine measurement
▶Research that mentions this SNP (1)
▶Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipientsAssociationN=1,000Kennedy RB et al.(2012)· Human Genetics
Genome-wide association study identifying SNPs associated with cytokine responses to vaccinia virus in 1,000 smallpox vaccine recipients. Multiple SNPs achieved genome-wide significance (p<5×10⁻⁷) for Th1 cytokines (IL-2, TNFα, IL-12p40) and inflammatory cytokines (IL-1β, IFNα, IL-6). Notable findings include rs16948200 in NGFR (12-fold difference in IL-2 secretion between genotypes), rs4251424 in IRAK4 (associated with TNFα), and rs2255327 in BLK (2-fold higher IL-6 in heterozygotes).
About SUPV3L1
Enables several functions, including double-stranded RNA binding activity; helicase activity; and protein homodimerization activity. Involved in several processes, including mitochondrial RNA 3'-end processing; mitochondrial RNA surveillance; and positive regulation of mitochondrial RNA catabolic process. Located in mitochondrial nucleoid and nucleus. Part of mitochondrial degradosome. [provided by Alliance of Genome Resources, Jul 2025]
View all SUPV3L1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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