rs35083095

This variant is located in the SUMF1 gene.

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GWAS Catalog Trait Associations (2)

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

histone-lysine N-methyltransferase SETMAR measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.19

p 2.0e-279

N 47,745

Large GWAS

European

level of formylglycine-generating enzyme in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.10

p 2.0e-52

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

10 submitters1 publication

not specified; Multiple sulfatase deficiency; not provided

View on ClinVar →

About SUMF1

This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]