rs392020

This is a coding sequence variant variant in the SLC25A5 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 6.0e-40
N 525,444
Large GWAS
multi-ancestry

mitochondrial DNA measurement

Chong M et al. “GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.” Elife 11 (2022)
Allele C
OR 0.02
p 7.0e-26
N 395,718
Large GWAS
European, South Asian, African unspecified
Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele C
OR 0.03
p 1.0e-18
N 163,372
Large GWAS
multi-ancestry

About SLC25A5

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]

View all SLC25A5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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