Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286

2015

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 23913389

2013

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147

2013

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 23800802

2013

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956

2012

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785

2011

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252

2010

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208

2007

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. 15253708

2004

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671

2002

dbSNP: rs1214047676
rs1214047676
0.700 GeneticVariation UNIPROT NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096

2000