rs72780350
This is a intron variant variant in the PRTFDC1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
reticulocyte count
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.07
p 5.0e-16
N 394,642
Large GWAS
European
reticulocyte amount
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.07
p 8.0e-15
N 394,642
Large GWAS
European
About PRTFDC1
Enables protein homodimerization activity. Predicted to be involved in purine ribonucleoside salvage. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
View all PRTFDC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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