rs2531995

This is a 3 prime utr variant variant in the ADCY9 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 weight

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 3.0e-69
N 425,537
Major Consortium StudyLarge GWAS
European
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 0.04
p 1.0e-8
N 57,043
Large GWAS
European

body mass index

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.03
p 2.0e-17
N 153,950
Large GWAS
East Asian
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele T
OR —
β 0.025
p 9.0e-15
N 309,889
Large GWAS
European
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.03
p 9.0e-10
N 123,097
Meta-analysisLarge GWAS
multi-ancestry

serum albumin amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 1.0e-9
N 435,807
Large GWAS
multi-ancestry

obesity

Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele T
OR 1.07
p 4.0e-8
N 204,498
Meta-analysisLarge GWAS
European

physical activity measurement, body mass index

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele T
OR 0.03
p 2.0e-11
N 161,368
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Gene‐gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non‐syndromic cleft lip with or without cleft palate in Chinese case‐parent trios
AssociationN=806Dongjing Liu et al.(2017)· American Journal of Medical Genetics Part A

This case-parent trio study examined 806 Chinese families to test association between SNPs in chromosome 16p13.3 and non-syndromic cleft lip with or without cleft palate (NSCL/P). While no individual SNPs showed significant marginal association after Bonferroni correction, nine SNP-SNP interaction pairs achieved significance, with the strongest interaction between rs2072346 (ADCY9) and rs11646137 (intergenic region, P=7.2×10⁻⁵), suggesting gene-gene interactions contribute to NSCL/P risk in this region.

Traits studied:Non-syndromic cleft lip with or without cleft palate
PubMedDOIMetascience Observatory

About ADCY9

Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]

View all ADCY9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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