rs13431529
This is a intron variant variant in the ALMS1P1 gene.
▶GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (14)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
N-acetylcitrulline measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.92
p —
N 4,912
Large GWAS
European
N-acetylleucine measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.58
p —
N 14,296
Large GWAS
European
N-acetylphenylalanine measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.70
p —
N 14,296
Large GWAS
European
N-delta-acetylornithine measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.97
p —
N 4,745
Large GWAS
European
cerebrospinal fluid composition attribute, N-delta-acetylornithine measurement
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele C
OR 0.22
p 3.0e-186
N 2,602
Large GWAS
European
N2,N5-diacetylornithine measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele C
OR 0.37
p 8.0e-155
N 14,296
Large GWAS
European
N2-acetyl,N6-methyllysine measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.79
p 7.0e-123
N 2,370
Large GWAS
multi-ancestry
cerebrospinal fluid composition attribute, N2-acetyl,N6-methyllysine measurement
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele C
OR 0.50
p 9.0e-114
N 2,311
Large GWAS
European
urinary metabolite measurement
Schlosser P et al. “Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.” Nature Genetics 52(2):167-176 (2020)
Allele C
OR 1.06
p 2.0e-109
N 1,221
Large GWAS
N-acetylornithine measurement
Rhee EP et al. “Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.” Kidney International 101(4):814-823 (2022)
Allele C
OR 0.73
p 2.0e-86
N 687
Small GWAS
African American or Afro-Caribbean
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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