rs1423753702, WT1

N. diseases: 6
Disease: Childhood Kidney Wilms Tumor ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Kidney Wilms Tumor
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
0.010 GeneticVariation BEFREE We report on a novel WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X), in a young XY male patient who presented with bilateral cryptorchidism, nystagmus, mild proteinuria and WT, but no sign of severe nephropathy. 19048299 2009