Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE In this paper, we present the currently known pathogenic and benign associations, and show that a rare p.R229Q association can be considered pathogenic if the variant in trans meets the following criteria; it affects the 270-351 residues and alters but does not disrupt the oligomerization, its p.R229Q association is found in a family with slowly progressing focal segmental glomerulosclerosis, but is expected to be rare in the general population (<1:10<sup>6</sup> ). 30260545

2018

dbSNP: rs61747728
rs61747728
0.090 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
0.090 GeneticVariation BEFREE Nevertheless, the rare association of FSGS to a PAX2 mutation may reflect the modifier effect of p.R229Q in the homozygous state. 23800802

2013

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE The podocin mutation R229Q may play a role in the pathogenesis of FSGS and in early recurrence after transplantation, but does not allow accurate prediction of recurrence or the associated potential for prevention. 23982418

2013

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. 20947785

2011

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS). 18726620

2008

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent. 16481888

2006

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE The common variant R229Q of podocin, recently associated with late-onset focal segmental glomerulosclerosis, had an overall allelic frequency of 4.2% versus 2.5% in controls. 12707396

2003

dbSNP: rs61747728
rs61747728
0.090 GeneticVariation BEFREE Identification of R229Q mutations may be of clinical importance, as NPHS2-associated disease appears to define a subgroup of FSGS patients unresponsive to corticosteroids. 12464671

2002