Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315342
rs74315342
NPHS2
T 0.700 CausalMutation CLINVAR Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 29382718

2018
dbSNP: rs1272948499
rs1272948499
NPHS2
T 0.700 GeneticVariation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080

2017
dbSNP: rs1462028977
rs1462028977
NPHS2
A 0.700 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945

2017
dbSNP: rs967339926
rs967339926
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027

2016
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278

2015
dbSNP: rs61747728
rs61747728
NPHS2
T 0.700 GeneticVariation CLINVAR Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 25599733

2015
dbSNP: rs61747728
rs61747728
NPHS2
T 0.700 GeneticVariation CLINVAR Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 26138234

2015
dbSNP: rs74315342
rs74315342
NPHS2
T 0.700 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs748812981
rs748812981
NPHS2
A 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs748812981
rs748812981
NPHS2
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs755972674
rs755972674
NPHS2
A 0.700 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs762631237
rs762631237
NPHS2
T 0.700 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
T 0.700 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs967339926
rs967339926
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1057516414
rs1057516414
NPHS2
A 0.700 GeneticVariation CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs1057516747
rs1057516747
NPHS2
GAGCCC 0.700 GeneticVariation CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014
dbSNP: rs1553312833
rs1553312833
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs1553316575
rs1553316575
NPHS2
A 0.700 GeneticVariation CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
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: rs61747728
rs61747728
NPHS2
T 0.700 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014
dbSNP: rs74315342
rs74315342
NPHS2
T 0.700 CausalMutation CLINVAR Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. 24500309

2014