rs7614016

This is a intron variant variant in the ADCY5 gene.

GWAS Catalog Trait Associations (6)

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

glucose measurement

Allele A
OR 0.04
p 4.0e-15
N 88,174
Large GWAS
European

diabetes mellitus, family history

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 1.0e-11
N 315,668
Major Consortium StudyLarge GWAS
European

body mass index

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 0.02
p 3.0e-11
N 607,387
Major Consortium StudyLarge GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele G
OR
β 0.021
p 1.0e-9
N 283,251
Large GWAS
multi-ancestry

type 2 diabetes mellitus

Allele G
OR 1.11
p 2.0e-9
N 60,975
Large GWAS
Hispanic or Latin American

total cholesterol measurement

Allele G
OR 0.05
p 7.0e-9
N 62,209
Large GWAS
Hispanic or Latin American
Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele G
OR
β 0.023
p 2.0e-8
N 283,251
Large GWAS
multi-ancestry

About ADCY5

This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

View all ADCY5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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