Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1291398331
rs1291398331
A 0.700 CausalMutation CLINVAR Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. 16721582

2006

dbSNP: rs1291398331
rs1291398331
A 0.700 CausalMutation CLINVAR Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. 14978175

2004

dbSNP: rs1291398331
rs1291398331
A 0.700 CausalMutation CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166

2002