rs470119

This is a upstream gene variant variant in the TYMP gene.

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GWAS Catalog Trait Associations (4)

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

erythrocyte volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.07
p 9.0e-58
N 121,047
Large GWAS
East Asian

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.07
p 5.0e-45
N 119,629
Large GWAS
East Asian

hemoglobin measurement, mean corpuscular hemoglobin

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele T
OR 0.07
p 4.0e-8
N 14,362
Large GWAS
East Asian
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Mitochondrial DNA depletion syndrome 1

View on ClinVar →

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]

View all TYMP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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