rs74315344, NPHS2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
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
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
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
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
0.010 GeneticVariation BEFREE The prevalence of p.P20L polymorphism was not significantly different among the groups (6 % in FSGS patients, 1.8 % in IGAN patients, 1 % in the control group). 22578956 2012
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
0.010 GeneticVariation BEFREE The prevalence of p.P20L polymorphism was not significantly different among the groups (6 % in FSGS patients, 1.8 % in IGAN patients, 1 % in the control group). 22578956 2012