rs4240520

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GWAS Catalog Trait Associations (4)

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

blood N(8)-acetylspermidine measurement, level of N(1)-acetylspermidine in blood

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele A

OR 0.26

p 1.0e-31

N 8,219

Large GWAS

European

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 G

OR 0.37

p 8.0e-30

N 3,926

Large GWAS

Hispanic or Latin American

level of N(1),N(12)-diacetylspermine in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele A

OR 0.32

p 3.0e-19

N 3,042

Large GWAS

multi-ancestry

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 0.47

p 7.0e-12

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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