NPHS2, NPHS2 stomatin family member, podocin, 7827

N. diseases: 86; N. variants: 67
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200482683
rs200482683
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs74315345
rs74315345
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs74315346
rs74315346
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs74315346
rs74315346
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.800 GeneticVariation CLINVAR
dbSNP: rs74315348
rs74315348
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs748812981
rs748812981
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs869025495
rs869025495
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs869025495
rs869025495
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs1031744496
rs1031744496
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1031744496
rs1031744496
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516395
rs1057516395
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516395
rs1057516395
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516523
rs1057516523
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516523
rs1057516523
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516680
rs1057516680
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516680
rs1057516680
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516880
rs1057516880
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
GTA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516880
rs1057516880
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
GTA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516900
rs1057516900
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
TG 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516900
rs1057516900
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
TG 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517164
rs1057517164
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517164
rs1057517164
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499703
rs1060499703
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060499703
rs1060499703
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR
dbSNP: rs1167223941
rs1167223941
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
A 0.700 GeneticVariation CLINVAR