rs2234582

This is a synonymous variant in the WT1 gene — it does not change the protein's amino acid sequence.

▶

GWAS Catalog Trait Associations (2)

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

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)

Allele C

OR 1.10

p 8.0e-12

N 275,546

Major Consortium StudyLarge GWAS

European

Thrombocytopenia

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)

Allele A

OR 0.80

p 3.0e-8

N 96,432

Large GWAS

East Asian

▶

ClinVar annotation

Benign★★★☆

15 submitters2 publications

11p partial monosomy syndrome (WAGR); Drash syndrome (DDS); Frasier syndrome; Inborn genetic diseases; Meacham syndrome; Nephroblastoma; Nephrotic syndrome, type 4 (NPHS4); Wilms tumor 1 (WT1); not specified

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

The Wilms Tumor-1 (WT1) rs2234593 variant is a prognostic factor in normal karyotype acute myeloid leukemia

AssociationN=474Ahmadreza Niavarani et al.(2016)· Annals of Hematology

In 474 young adult acute myeloid leukemia (AML) patients with normal karyotype, the WT1 rs2234593 variant showed significant association with WT1 exon 7 mutation status and independent prognostic value. Patients with rs2234593 AA/AC genotype showed superior 10-year overall survival (50% vs 36%, HR=0.69, p=0.006) and lower cumulative incidence of relapse (36% vs 51%, HR=0.62, p=0.004) compared to CC carriers. The protective effect remained significant after adjustment for FLT3-ITD and NPM1 mutations, making rs2234593 a prognostic marker independent of these established AML risk factors.

Traits studied:Acute myeloid leukemia (AML) prognosisComplete remissionCumulative incidence of relapseOverall survivalRelapse riskRelapse-free survivalResistant disease

PubMed DOI Metascience Observatory

About WT1

This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]