rs140836083

This variant is located in the CNDP1 gene.

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GWAS Catalog Trait Associations (2)

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

beta-Ala-His dipeptidase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.35

p 7.0e-13

N 47,745

Large GWAS

European

cerebrospinal fluid composition attribute

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 T

OR 0.38

p 6.0e-12

N 2,602

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

3 submitters2 publications

not provided; not specified

View on ClinVar →

About CNDP1

This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]