rs2564921
This is a 3 prime utr variant variant in the RFT1 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.
body height
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele T
OR 1.15
p 2.0e-12
N 16,196
Meta-analysisLarge GWAS
European
polyunsaturated fatty acids to monounsaturated fatty acids ratio
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 2.0e-10
N 239,268
Large GWAS
European
polyunsaturated fatty acids to total fatty acids percentage
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 7.0e-10
N 239,268
Large GWAS
European
fatty acid amount, omega-6 polyunsaturated fatty acid measurement
Yuan F et al. “Blood metabolic biomarkers and colorectal cancer risk: results from large prospective cohort and Mendelian randomisation analyses.” British Journal of Cancer 133(1):94-103 (2025)
Allele T
OR 0.02
p 2.0e-9
N 199,732
Large GWAS
European
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 7.0e-10
N 239,268
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
2 submitters1 publicationRFT1-congenital disorder of glycosylation (CDG1N)
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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