rs11676272
This variant is located in the ADCY3 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
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 1.0e-96
N 1,122,049
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele G
OR 0.03
p 2.0e-90
N 694,649
Large GWAS
European
Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)
Allele G
OR 0.03
p 4.0e-59
N 526,508
Large GWAS
multi-ancestry
Gong J et al. “Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.” International Journal of Obesity (2005) 42(3):384-390 (2018)
Allele G
OR —
β 0.006
p 1.0e-10
N 102,514
Large GWAS
multi-ancestry
Vogelezang S et al. “Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.” Plos Genetics 16(10):e1008718 (2020)
Allele G
OR 0.07
p 2.0e-21
N 39,620
Large GWAS
European
Felix JF et al. “Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.” Human Molecular Genetics 25(2):389-403 (2016)
Allele G
OR 0.07
p 7.0e-23
N 34,744
Large GWAS
European
Helgeland Ø et al. “Characterization of the genetic architecture of infant and early childhood body mass index.” Nature Metabolism 4(3):344-358 (2022)
Allele G
OR 0.07
p 4.0e-10
N 21,514
Large GWAS
European
Warrington NM et al. “A genome-wide association study of body mass index across early life and childhood.” International Journal of Epidemiology 44(2):700-12 (2015)
Allele G
OR 0.01
p 1.0e-11
N 9,377
Large GWAS
European
smoking initiation
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele G
OR 0.01
p 4.0e-15
N 3,382,012
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified
hip circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.03
p 4.0e-11
N 143,480
Large GWAS
multi-ancestry
height-adjusted body mass index
Stergiakouli E et al. “Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3.” Obesity (silver Spring, Md.) 22(10):2252-9 (2014)
Allele G
OR 0.20
p 4.0e-9
N 5,809
Large GWAS
European
chronotype measurement
Jones SE et al. “Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.” Nature Communications 10(1):343 (2019)
Allele A
OR 0.01
p 1.0e-8
N 449,734
Large GWAS
European
dental caries, dentures
Shungin D et al. “Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.” Nature Communications 10(1):2773 (2019)
Allele A
OR 0.01
p 1.0e-8
N 487,823
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout ADCY3
This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
View all ADCY3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…