rs2074686
This variant is located in the AP1S1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
smoking initiation
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 1.0e-14
N 2,669,029
Large GWAS
European
body mass index
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.01
p 1.0e-10
N 694,649
Large GWAS
European
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 0.01
p 1.0e-8
N 523,818
Large GWAS
multi-ancestry
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 A
OR 0.01
p 2.0e-8
N 441,761
Large GWAS
European
body height
Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele G
OR 0.01
p 3.0e-9
N 453,169
Large GWAS
European
social inhibition quality, attention deficit hyperactivity disorder, substance abuse
Karlsson Linnér R et al. “Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.” Nature Neuroscience 24(10):1367-1376 (2021)
Allele G
OR 0.01
p 3.0e-9
N 2,776,348
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout AP1S1
The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
View all AP1S1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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