rs9883204

This variant is located in the ADCY5 gene.

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GWAS Catalog Trait Associations (2)

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

birth weight

Horikoshi M et al. “New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.” Nature Genetics 45(1):76-82 (2013)
Allele C
OR 0.06
p 6.0e-20
N 26,836
Large GWAS
European
Freathy RM et al. “Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.” Nature Genetics 42(5):430-5 (2010)
Allele C
OR 0.06
p 7.0e-15
N 10,623
Large GWAS
multi-ancestry

glucose measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 1.0e-12
N 136,016
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight
AssociationN=4,213Andersson EA et al.(2010)· Diabetologia

This association study of 4,213 Danish individuals examined 25 type 2 diabetes risk variants and their association with birthweight. The study found that type 2 diabetes risk alleles near ADCY5 (rs11708067, β = -33 g, p = 0.004), CDKAL1 (rs7756992, β = -22 g, p = 0.04), and HHEX-IDE (rs1111875, β = -16 g in meta-analysis, p = 8×10⁻⁵, n = 25,164) were associated with reduced birthweight, supporting the fetal insulin hypothesis. Meta-analyses confirmed these associations and showed no strong general effect on birthweight from the 25 common type 2 diabetes risk alleles combined.

Traits studied:Birth lengthBirthweightPonderal indexType 2 diabetes
PubMedDOIMetascience Observatory

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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