rs12611275

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (6)

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

gamma-CEHC 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 A
OR 0.23
p 8.0e-29
N 4,693
Large GWAS
European

gamma-CEHC glucuronide 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 A
OR 0.23
p 1.0e-27
N 4,909
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.13
p 1.0e-19
N 10,708
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 A
OR 0.21
p 1.0e-18
N 4,743
Large GWAS
European

peripheral neuropathy

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.06
p 9.0e-13
N 593,404
Major Consortium StudyLarge 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 A
OR 0.40
p 2.0e-18
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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