Gene: AXDND1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286

2015
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286

2015
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
T 0.800 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286

2015
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
T 0.800 CausalMutation CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380

2014
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
T 0.800 CausalMutation CLINVAR Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 24742477

2014
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
A 0.800 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
A 0.800 GeneticVariation CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
T 0.800 CausalMutation CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318

2013
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
T 0.800 CausalMutation CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
T 0.800 GeneticVariation CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 23800802

2013
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147

2013
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 23913389

2013
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147

2013
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 23913389

2013
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
T 0.800 CausalMutation CLINVAR A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 23595123

2013
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 23800802

2013
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147

2013
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 23800802

2013