rs4888262

This is a synonymous variant in the RFWD3 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

testicular carcinoma

Chung CC et al. “Meta-analysis identifies four new loci associated with testicular germ cell tumor.” Nature Genetics 45(6):680-5 (2013)

Allele C

OR 1.26

p 5.0e-12

N 1,638

Meta-analysis

European

Testicular Germ Cell Tumor

Wang Z et al. “Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.” Nature Genetics 49(7):1141-1147 (2017)

Allele T

OR 1.20

p 6.0e-11

N 17,528

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Fanconi anemia, complementation group W

View on ClinVar →

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Research that mentions this SNP (1)

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Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group

AssociationN=366Marcotte EL et al.(2017)· Genes, Chromosomes and Cancer

Case-parent triad study of 366 pediatric and adolescent germ cell tumor (GCT) cases examining 26 SNPs from adult testicular GCT GWAS. Three variants reached multiple testing-corrected significance: SPRY4 rs4624820 (OR=0.70, protective), BAK1 rs210138 (OR=1.70, particularly strong for testicular tumors OR=3.31), and GAB2 rs948662 (OR=1.56). Maternal effects observed for KITLG rs4474514 (OR=1.66) and rs7221274 near TEX14/RAD51C/PPM1E (OR=1.63).

Traits studied:Adolescent germ cell tumorsExtragonadal germ cell tumorsGerm cell tumorsGerminomasIntracranial germ cell tumorsOvarian germ cell tumorsPediatric germ cell tumorsTeratomasTesticular germ cell tumorsYolk sac tumors

PubMed DOI Metascience Observatory

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]