rs111540621

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (10)

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 G
OR 1.03
p —
N 3,904
Large GWAS
European

N2-acetyl,N6-methyllysine measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.92
p 3.0e-305
N 6,136
Large GWAS
European

N-acetylphenylalanine 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 G
OR 0.32
p 3.0e-158
N 4,926
Large GWAS
European

metabolite 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 G
OR 0.35
p 1.0e-122
N 4,853
Large GWAS
European
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 G
OR 0.30
p 6.0e-88
N 14,296
Large GWAS
European
Panyard DJ et al. “Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations.” Communications Biology 4(1):63 (2021)
Allele G
OR 0.46
p 3.0e-31
N 291
Small GWAS
European

X-11787 measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.53
p 3.0e-105
N 6,136
Large GWAS
European

N-acetylleucine 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 G
OR 0.23
p 4.0e-99
N 4,859
Large GWAS
European

blood metabolite level

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.25
p 3.0e-47
N 8,443
Large GWAS
multi-ancestry

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele C
OR 0.30
p 2.0e-30
N 3,926
Large GWAS
multi-ancestry

2-aminooctanoate 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 G
OR 0.62
p 3.0e-11
N 822
Small 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 G
OR 0.87
p 3.0e-43
N 1,221
Large GWAS

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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