Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199506378
rs199506378
A 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015

dbSNP: rs199506378
rs199506378
A 0.700 GeneticVariation CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278

2015

dbSNP: rs199506378
rs199506378
A 0.700 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014

dbSNP: rs199506378
rs199506378
A 0.700 GeneticVariation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051

2013

dbSNP: rs199506378
rs199506378
A 0.700 GeneticVariation CLINVAR Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252

2010

dbSNP: rs199506378
rs199506378
A 0.700 GeneticVariation CLINVAR Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239

2009

dbSNP: rs199506378
rs199506378
A 0.700 GeneticVariation CLINVAR NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671

2002