Gene: NPHS2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE NPHS2 gene analysis showed R229Q polymorphism in six SRNS (30%), four SSNS (4.4%) and 13 controls (26%). 24519673

2014
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. 24715228

2014
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful. 23800802

2013
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE In this preliminary study, we showed that NPHS2 gene p.R229Q polymorphism does not present in Iranian-Azeri population with SRNS. 24072153

2013
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome. 22578956

2012
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE Six additional cases with late childhood- and adult-onset SRNS were compound heterozygotes for p.R229Q and one pathogenic mutation, mostly p.A284V. p.R229Q was more frequent among SRNS cases relative to controls (odds ratio=2.65; P=0.02). 20947785

2011
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE In steroid-resistant nephrotic syndrome (SRNS) Machuca et al. report that mutations of the recessive podocin gene cause adult-onset SRNS if the R229Q genetic variant occurs in a compound heterozygous state with another podocin mutation. 19282856

2009
dbSNP: rs61747728
rs61747728
NPHS2
0.080 GeneticVariation BEFREE Our study shows that compound heterozygosity for p.R229Q is associated with adult-onset steroid-resistant NS, mostly among patients of European and South American origin. 19145239

2009
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.010 GeneticVariation BEFREE We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS. 23242530

2013
dbSNP: rs74315344
rs74315344
NPHS2
0.010 GeneticVariation BEFREE In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome. 22578956

2012
dbSNP: rs1462028977
rs1462028977
NPHS2
0.010 GeneticVariation BEFREE The compound heterozygous mutation in NPHS2 may explain the development of SRNS in this family. p.Arg71X is a novel disease-causing mutation leading to a deficient expression of podocin. 20001346

2009
dbSNP: rs74315342
rs74315342
NPHS2
0.010 GeneticVariation BEFREE All but one patient affected by truncating or homozygous R138Q mutations developed SRNS before 6 yr of age. 18216321

2008
dbSNP: rs74315343
rs74315343
NPHS2
0.010 GeneticVariation BEFREE Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2. 16291839

2006
dbSNP: rs530318579
rs530318579
NPHS2
0.010 GeneticVariation BEFREE We identified a novel mutation of NPHS2(467_468insT and 503G>A) in a Chinese family with autosomal recessive SRNS using polymerase chain re-action, denaturing high-performance liquid chromatography, and DNA sequencing techniques. 15322893

2004
dbSNP: rs748812981
rs748812981
NPHS2
0.010 GeneticVariation BEFREE In this report, the cases of 3 siblings with steroid-resistant nephrotic syndrome who carry NPHS2 mutations (R238S and P118L) are presented. 15264208

2004
dbSNP: rs869025495
rs869025495
NPHS2
0.010 GeneticVariation BEFREE In this report, the cases of 3 siblings with steroid-resistant nephrotic syndrome who carry NPHS2 mutations (R238S and P118L) are presented. 15264208

2004