rs180800708

This variant is located in the SBF1 gene.

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GWAS Catalog Trait Associations (1)

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

plexin-B2 measurement

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

Allele T

OR 0.30

p 1.0e-19

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

7 submitters2 publications

not provided; Charcot-Marie-Tooth disease type 4B3; SBF1-related disorder; not specified

View on ClinVar →

About SBF1

This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]

View all SBF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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