rs763972372, NPHS1

N. diseases: 2
Disease: Nephrosis, congenital ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephrosis, congenital
CUI: C3501848
Disease: Nephrosis, congenital
0.010 GeneticVariation BEFREE The novel splice site mutation of IVS11+1G>A and a missense mutation at c.928G>A in NPHS1 were found to cause CNS in this Chinese child. 25729976 2015