rs62255926
This variant is located in the RFT1 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
Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele T
OR 0.03
p 4.0e-8
N 1,407,282
Meta-analysisLarge GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationRFT1-congenital disorder of glycosylation; not provided
View on ClinVar →About RFT1
This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
View all RFT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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