rs397507545, PTPN11

N. diseases: 20
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
0.010 GeneticVariation BEFREE These mutations have been reported previously, and when they were germinal variants, patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been also observed in a patient with severe NS and hydrops fetalis, as our cases. 29703613 2019