Gene: AXDND1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT

dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1031744496
rs1031744496
NPHS2 ; AXDND1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516523
rs1057516523
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516900
rs1057516900
NPHS2 ; AXDND1
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517164
rs1057517164
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs776016942
rs776016942
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs866921812
rs866921812
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT

dbSNP: rs869312747
rs869312747
NPHS2 ; AXDND1
A 0.700 CausalMutation CLINVAR

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
T 0.800 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
T 0.800 CausalMutation CLINVAR A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012
dbSNP: rs775170915
rs775170915
NPHS2 ; AXDND1
C 0.700 CausalMutation CLINVAR Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. 18443213

2008
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239

2009
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 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 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239

2009
dbSNP: rs780761368
rs780761368
NPHS2 ; AXDND1
A 0.800 GeneticVariation CLINVAR Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 21415313

2011
dbSNP: rs74315348
rs74315348
NPHS2 ; AXDND1
0.800 GeneticVariation UNIPROT Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785

2011