Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380

2014

dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013

dbSNP: rs200482683
rs200482683
T 0.700 GeneticVariation CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013

dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318

2013

dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956

2012

dbSNP: rs200482683
rs200482683
T 0.700 GeneticVariation CLINVAR Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956

2012

dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. 21171529

2010

dbSNP: rs200482683
rs200482683
T 0.700 GeneticVariation CLINVAR Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. 21171529

2010

dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. 18216321

2008

dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208

2007

dbSNP: rs200482683
rs200482683
T 0.700 CausalMutation CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166

2002

dbSNP: rs200482683
rs200482683
T 0.700 GeneticVariation CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166

2002