rs7129527
This is a intron variant variant in the NPAT 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.
platelet crit
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 G
OR 0.04
p 1.0e-26
N 164,339
Large GWAS
European
clonal hematopoiesis
Wen S et al. “Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.” Nature Genetics 57(3):572-582 (2025)
Allele G
OR 1.14
p 2.0e-10
N 391,811
Major Consortium StudyLarge GWAS
European
About NPAT
Enables transcription coactivator activity and transcription corepressor activity. Involved in cell cycle G1/S phase transition and positive regulation of transcription by RNA polymerase II. Located in Cajal body; Gemini of Cajal bodies; and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all NPAT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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