rs3134950

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

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GWAS Catalog Trait Associations (9)

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

pulse pressure measurement

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)
Allele C
OR 0.02
p 4.0e-21
N 349,328
Large GWAS
multi-ancestry

systolic blood pressure

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 0.02
p 6.0e-12
N 609,497
Major Consortium StudyLarge GWAS
multi-ancestry

cardiovascular measurement

Kany S et al. “Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.” Nature Genetics 58(1):47-56 (2026)
Allele C
OR 0.03
p 1.0e-11
N 96,385
Large GWAS
European

level of Phosphatidylcholine (16:0_16:0) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele C
OR 0.10
p 1.0e-8
N 7,174
Large GWAS
European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele C
OR —
p 5.0e-13
N 110,346
Large GWAS
European

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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