rs1414739809, PKD1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Denys-Drash Syndrome
CUI: C0950121
Disease: Denys-Drash Syndrome
0.010 GeneticVariation BEFREE Genetic analysis revealed a de novo heterozygous missense mutation c.1186G>A (p.Asp396Asn) in the WT1 gene, confirming the diagnosis of DDS. 24379226 2014