rs10022462
This is a intron variant variant in the PPM1K-DT 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.
2-aminobutyrate measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.12
p 5.0e-15
N 8,242
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.10
p 1.0e-11
N 8,809
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.012
p 5.0e-11
N 7,814
Large GWAS
European
breast carcinoma
Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele T
OR 1.04
p 3.0e-10
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele T
OR 1.04
p 2.0e-9
N 139,274
Large GWAS
multi-ancestry
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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