rs11479

This is a variant in the TYMP gene that changes a serine to an leucine.

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GWAS Catalog Trait Associations (1)

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

erythrocyte volume

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.06
p 2.0e-11
N 38,000
Large GWAS
South Asian
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ClinVar annotation

Benign★★★☆
1 submitter6 publications

Fatal Infantile Cardioencephalomyopathy; Mitochondrial DNA depletion syndrome 1; Spinal muscular atrophy (SMA); not specified

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About TYMP

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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