rs74315343, NPHS2

N. diseases: 5
Disease: Steroid resistant nephrotic syndrome of childhood ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
0.010 GeneticVariation BEFREE Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2. 16291839 2006