rs2460457

This variant is located in the CHMP1A gene.

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GWAS Catalog Trait Associations (3)

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

level of C-type lectin domain family 4 member G in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 1.0e-17
N 47,745
Large GWAS
European

calcium measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 2.0e-17
N 394,642
Large GWAS
European

diastolic blood pressure

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele C
OR 0.18
p 7.0e-12
N 459,777
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About CHMP1A

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all CHMP1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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