rs201202118
This variant is located in the TSFM 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.
multiple sclerosis
Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele A
OR 1.13
p 9.0e-22
N 38,589
Large GWAS
European
About TSFM
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
View all TSFM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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