rs3730071

This variant is located in the ADCY6 gene.

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GWAS Catalog Trait Associations (5)

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 C
OR 0.03
p 2.0e-12
N 1,122,049
Large GWAS
European
Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele C
OR 0.03
p 5.0e-9
N 441,761
Large GWAS
European

fat pad mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 3.0e-12
N 394,642
Large GWAS
European

base metabolic rate measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 8.0e-12
N 394,642
Large GWAS
European

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele A
OR 6.52
p 7.0e-11
N 1,508,659
Large GWAS
multi-ancestry

body weight

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.04
p 4.0e-9
N 525,535
Large GWAS
multi-ancestry
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ClinVar annotation

Benign
1 submitter

ADCY6-related disorder

View on ClinVar →

About ADCY6

This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]

View all ADCY6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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