rs34894639

This is a intron variant variant in the PPP2R3A gene.

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GWAS Catalog Trait Associations (15)

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

tyrosine measurement

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele C
OR 0.04
p 8.0e-17
N 117,944
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele C
OR 0.04
p 6.0e-15
N 88,207
Large GWAS
European

triglyceride measurement

Lind L et al. “Genetic Determinants of Clustering of Cardiometabolic Risk Factors in U.K. Biobank.” Metabolic Syndrome and Related Disorders 18(3):121-127 (2020)
Allele T
OR 0.02
p 2.0e-15
N 291,107
Large GWAS
European
Surakka I et al. “The impact of low-frequency and rare variants on lipid levels.” Nature Genetics 47(6):589-97 (2015)
Allele T
OR 0.04
p 8.0e-9
N 62,166
Large GWAS
European

high density lipoprotein cholesterol measurement

Lind L et al. “Genetic Determinants of Clustering of Cardiometabolic Risk Factors in U.K. Biobank.” Metabolic Syndrome and Related Disorders 18(3):121-127 (2020)
Allele T
OR 0.01
p 1.0e-14
N 291,107
Large GWAS
European

waist circumference

Lind L et al. “Genetic Determinants of Clustering of Cardiometabolic Risk Factors in U.K. Biobank.” Metabolic Syndrome and Related Disorders 18(3):121-127 (2020)
Allele T
OR 0.24
p 1.0e-10
N 291,107
Large GWAS
European

total cholesterol measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 1.0e-9
N 136,016
Large GWAS
multi-ancestry

About PPP2R3A

This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]

View all PPP2R3A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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