rs10998625

This is a intron variant variant in the SUPV3L1 gene.

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GWAS Catalog Trait Associations (1)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.25
p 5.0e-64
N 10,708
Large GWAS
European

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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