rs73023451

This variant is located in the C19orf12 gene.

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GWAS Catalog Trait Associations (1)

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

level of protein C19orf12 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.33

p 3.0e-14

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

10 submitters3 publications

not specified; Hereditary spastic paraplegia 43; Neurodegeneration with brain iron accumulation 4; not provided; Hereditary spastic paraplegia

View on ClinVar →

About C19orf12

This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all C19orf12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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