rs2224391

This is a variant in the FARS2 gene that changes a serine to an alanine.

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GWAS Catalog Trait Associations (1)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele C

OR 0.01

p 8.0e-11

N 1,122,049

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

4 submitters2 publications

Combined oxidative phosphorylation deficiency 19 (COXPD19); not specified

View on ClinVar →

About FARS2

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all FARS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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