rs9267812

This is a upstream gene variant variant in the PPT2 gene.

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GWAS Catalog Trait Associations (10)

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

lymphocyte count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 9.0e-41
N 234,778
Large GWAS
European

platelet-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 1.0e-35
N 234,552
Large GWAS
European

rac GTPase-activating protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.400
p 1.0e-30
N 3,301
Large GWAS
European

neutrophil count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 2.0e-29
N 234,802
Large GWAS
European

basophil count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 8.0e-22
N 234,678
Large GWAS
European

level of cartilage-associated protein in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 4.0e-20
N 47,745
Large GWAS
European

monocyte count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 7.0e-20
N 234,690
Large GWAS
European

birth weight

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele T
OR 0.02
p 3.0e-9
N 321,223
Large GWAS
multi-ancestry

About PPT2

This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]

View all PPT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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