rs11242

This variant is located in the RFT1 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.02

p 1.0e-13

N 472,730

Large GWAS

East Asian

BMI-adjusted hip circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)

Allele T

OR 0.04

p 1.0e-11

N 143,480

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

not specified; RFT1-congenital disorder of glycosylation; RFT1-related disorder; 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]