rs2999545

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GWAS Catalog Trait Associations (4)

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

beta-hydroxyisovalerate 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 A

OR 0.15

p 5.0e-49

N 14,296

Large GWAS

European

indoleacetylglutamine measurement

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

Allele T

OR 0.14

p 5.0e-18

N 6,777

Large GWAS

multi-ancestry

3-hydroxyisovalerate measurement, serum creatinine amount

Valo E et al. “Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.” Nature Communications 16(1):325 (2025)

Allele A

OR 0.11

p 5.0e-12

N 8,007

Large GWAS

European

pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) 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 0.10

p 1.0e-10

N 7,837

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.

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