Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61747728
rs61747728
0.060 GeneticVariation BEFREE In contrast, a patient who carries the R229Q variant in combination with a pathogenic variant in exons 1 to 6 is unlikely to develop nephrotic syndrome. 30241959

2019

dbSNP: rs61747728
rs61747728
0.060 GeneticVariation BEFREE Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS. 25599733

2015

dbSNP: rs61747728
rs61747728
0.060 GeneticVariation BEFREE In conclusion, our meta-analysis suggests that for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome and that the p.R229Q allele cannot currently be considered a risk factor for predicting FSGS. 24715228

2014

dbSNP: rs61747728
rs61747728
0.060 GeneticVariation BEFREE R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study. 24072153

2013

dbSNP: rs61747728
rs61747728
0.060 GeneticVariation BEFREE Homozygous p.R229Q mutation in the NPHS2 gene was found in two children with childhood-onset NS. 22565185

2012

dbSNP: rs61747728
rs61747728
0.060 GeneticVariation BEFREE Recently, a functional polymorphism of this gene (R229Q) was described and associated with a maturity-onset form of nephrotic syndrome. 14871423

2004