rs893971

This is a upstream gene variant variant in the PPM1K gene.

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GWAS Catalog Trait Associations (1)

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

leucine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.08
p 5.0e-79
N 136,016
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Does parental expressed emotion moderate genetic effects in ADHD? an exploration using a genome wide association scan
AssociationN=909Edmund J.S. Sonuga‐Barke et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This genome-wide association study examined whether parental expressed emotion moderates genetic effects on ADHD symptoms and conduct disorder in 909 family trios (600,000 SNPs genotyped). No gene-by-environment interactions reached genome-wide significance. Nominal effects were observed with 36 uncorrected interaction P-values <10⁻⁵, implicating both novel genes and candidate genes. SNPs in SLC1A1 and NRG3 emerged as candidate genes for follow-up, though the authors emphasize these findings are preliminary and require replication.

Traits studied:ADHD symptomsAttention-Deficit/Hyperactivity Disorder (ADHD)Comorbid conduct disorderConduct Disorder
PubMedDOIMetascience Observatory

About PPM1K

This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]

View all PPM1K variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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