rs11717195

This is a intron variant variant in the ADCY5 gene.

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GWAS Catalog Trait Associations (3)

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

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)
Allele C
OR 0.99
p 3.0e-111
N 43,148
Large GWAS
multi-ancestry

cryptic protein 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 0.05
p 6.0e-16
N 47,745
Large GWAS
European

type 2 diabetes mellitus

Morris AP et al. “Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes” Nature Genetics (2012)
Allele T
OR 1.11
p 6.0e-14
N 69,033
Large GWAS
multi-ancestry
Mahajan A et al. “Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.” Nature Genetics 46(3):234-44 (2014)
Allele T
OR 1.09
p 2.0e-8
N 110,452
Meta-analysisLarge GWAS
multi-ancestry
Loh M et al. “Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.” Communications Biology 5(1):329 (2022)
Allele T
OR 0.11
p 2.0e-9
N 50,533
Large GWAS
South Asian

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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