rs73088350

This variant is located in the RFT1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

interleukin-17 receptor B 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 0.06

p 5.0e-13

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

2 submitters

not provided; Sarcoma; Thymoma; Malignant tumor of esophagus

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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