rs10018448

This variant is located in the PPM1K-DT gene.

GWAS Catalog Trait Associations (6)

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

amino acid measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.09
p
N 450,015
Large GWAS
multi-ancestry
Allele G
OR 0.10
p 9.0e-129
N 115,051
Large GWAS
European
Allele G
OR 0.10
p 3.0e-100
N 88,303
Large GWAS
European

leucine measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.08
p
N 450,015
Large GWAS
multi-ancestry
Allele G
OR 0.09
p 3.0e-109
N 117,944
Large GWAS
European
Allele G
OR 0.09
p 1.0e-108
N 115,078
Large GWAS
European

valine measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.10
p
N 450,015
Large GWAS
multi-ancestry
Allele G
OR 0.10
p 8.0e-150
N 117,944
Large GWAS
European
Allele G
OR 0.11
p 1.0e-149
N 115,052
Large GWAS
European
Allele G
OR 0.11
p 3.0e-118
N 88,303
Large GWAS
European
Feofanova EV et al. Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations. Nature Communications 14(1):3111 (2023)
Allele G
OR 0.11
p 1.0e-15
N 11,804
Large GWAS
multi-ancestry

isoleucine measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.06
p 4.0e-199
N 450,015
Large GWAS
multi-ancestry
Allele G
OR 0.07
p 1.0e-60
N 115,079
Large GWAS
European
Feofanova EV et al. Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations. Nature Communications 14(1):3111 (2023)
Allele G
OR 0.11
p 1.0e-16
N 11,810
Large GWAS
multi-ancestry

alanine measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 7.0e-93
N 450,015
Large GWAS
multi-ancestry

alpha-hydroxyisovalerate measurement

Allele A
OR 0.10
p 2.0e-24
N 14,296
Large GWAS
European
Allele A
OR 0.09
p 2.0e-10
N 8,208
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…