Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785

2011
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. 21355056

2011
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239

2009
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR NPHS2 variation in focal and segmental glomerulosclerosis. 18823551

2008
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. 15327385

2004
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. 15253708

2004
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166

2002
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 GeneticVariation CLINVAR NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096

2000
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
C 0.700 CausalMutation CLINVAR