rs12413409

This is a regulatory region variant variant in the CNNM2 gene.

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GWAS Catalog Trait Associations (4)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.03
p 2.0e-44
N 1,122,049
Large GWAS
European
Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)
Allele G
OR 0.03
p 3.0e-17
N 650,000
Large GWAS
European

brain aneurysm

Yasuno K et al. “Genome-wide association study of intracranial aneurysm identifies three new risk loci.” Nature Genetics 42(5):420-5 (2010)
Allele G
OR 1.29
p 1.0e-9
N 15,295
Large GWAS
multi-ancestry

coronary artery disease

Schunkert H et al. “Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.” Nature Genetics 43(4):333-338 (2011)
Allele G
OR 1.12
p 1.0e-9
N 86,995
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
View on ClinVar →

About CNNM2

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all CNNM2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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