rs7193541

This is a variant in the RFWD3 gene that changes a isoleucine to an valine.

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GWAS Catalog Trait Associations (1)

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

multiple myeloma

Mitchell JS et al. “Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.” Nature Communications 7:12050 (2016)

Allele T

OR 1.13

p 5.0e-12

N 241,704

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

2 submitters2 publications

not provided; not specified

View on ClinVar →

About RFWD3

Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of double-strand break. Implicated in Fanconi anemia complementation group W. [provided by Alliance of Genome Resources, Jul 2025]

View all RFWD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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