rs2062316
This is a intron variant variant in the ABHD17C gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
systolic blood pressure
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 5.0e-19
N 394,642
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 G
OR 0.02
p 8.0e-16
N 485,664
Large GWAS
multi-ancestry
Teixeira SK et al. “Assessing the predictive efficacy of European-based systolic blood pressure polygenic risk scores in diverse Brazilian cohorts.” Scientific Reports 14(1):28123 (2024)
Allele G
OR 0.36
p 3.0e-11
N 286,581
Large GWAS
European
body weight
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 A
OR 0.02
p 5.0e-17
N 928,679
Large GWAS
multi-ancestry
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 G
OR 0.01
p 2.0e-13
N 394,642
Large GWAS
European
whole body water mass
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 4.0e-13
N 394,642
Large GWAS
European
heart failure
Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)
Allele G
OR 5.85
p 5.0e-9
N 762,151
Large GWAS
European
About ABHD17C
Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in dendritic spine; postsynaptic density membrane; and recycling endosome membrane. Predicted to be active in endosome membrane; glutamatergic synapse; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]
View all ABHD17C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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