rs4077678

This is a intron variant variant in the ADCY3 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index

Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)
Allele C
OR 0.05
p 2.0e-12
N 56,793
Large GWAS
European

obesity

Bradfield JP et al. “A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity.” Human Molecular Genetics 28(19):3327-3338 (2019)
Allele C
OR 0.13
p 1.0e-11
N 28,604
Meta-analysisLarge GWAS
multi-ancestry

About 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.

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