rs7594480
This variant is located in the ACVR1C gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele T
OR —
p 1.0e-19
N 2,535,601
Large GWAS
multi-ancestry
Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)
Allele T
OR 0.07
p 1.0e-8
N 251,740
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout ACVR1C
ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
View all ACVR1C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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