rs2581778

This variant is located in the SFMBT1 gene.

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GWAS Catalog Trait Associations (2)

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

urate measurement

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)

Allele A

OR 0.05

p 3.0e-89

N 630,117

Large GWAS

European

gout

Sandoval-Plata G et al. “Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank.” Annals of the Rheumatic Diseases 80(9):1220-1226 (2021)

Allele A

OR 1.16

p 4.0e-14

N 71,473

Major Consortium StudyLarge GWAS

European

About SFMBT1

This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]

View all SFMBT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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