rs12266014
This is a intron variant variant in the PRTFDC1 gene.
▶GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (12)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
monocyte count
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 6.0e-71
N 259,608
Major Consortium StudyLarge GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.05
p 8.0e-48
N 170,721
Large GWAS
European
leukocyte quantity
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.05
p 1.0e-44
N 172,435
Large GWAS
European
myeloid leukocyte count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.05
p 3.0e-39
N 169,219
Large GWAS
European
erythrocyte attribute
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele T
OR 0.09
p 2.0e-33
N 39,566
Large GWAS
European
granulocyte count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.04
p 2.0e-32
N 169,822
Large GWAS
European
neutrophil count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.04
p 2.0e-32
N 170,702
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 1.0e-18
N 389,163
Major Consortium StudyLarge GWAS
multi-ancestry
neutrophil count, basophil count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.04
p 3.0e-32
N 170,143
Large GWAS
European
neutrophil count, eosinophil count
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.04
p 3.0e-32
N 170,384
Large GWAS
European
immature granulocyte count
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele T
OR 0.08
p 7.0e-25
N 37,939
Large GWAS
European
immature granulocyte measurement
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele T
OR 0.06
p 2.0e-16
N 37,926
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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