Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs528833893
rs528833893
CA 0.700 CausalMutation CLINVAR A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 20001346

2009

dbSNP: rs528833893
rs528833893
CA 0.700 CausalMutation CLINVAR R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms. 19674119

2009

dbSNP: rs528833893
rs528833893
CA 0.700 CausalMutation CLINVAR In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. 15327385

2004

dbSNP: rs528833893
rs528833893
CA 0.700 CausalMutation CLINVAR A novel mutation of NPHS2 identified in a Chinese family. 15322893

2004

dbSNP: rs528833893
rs528833893
CA 0.700 CausalMutation CLINVAR Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. 14978175

2004