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: rs1167223941
rs1167223941
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1212702104
rs1212702104
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1212702104
rs1212702104
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs12568913
rs12568913
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs12568913
rs12568913
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
A 0.700 CausalMutation CLINVAR
dbSNP: rs1272948499
rs1272948499
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1272948499
rs1272948499
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C0033687
Disease:
Proteinuria
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1272948499
rs1272948499
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR
dbSNP: rs1320543506
rs1320543506
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
GC 0.700 CausalMutation CLINVAR
dbSNP: rs1320543506
rs1320543506
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
GC 0.700 CausalMutation CLINVAR
dbSNP: rs1340195940
rs1340195940
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs1477180313
rs1477180313
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs1553315173
rs1553315173
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553315173
rs1553315173
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553316611
rs1553316611
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553316611
rs1553316611
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553316648
rs1553316648
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
CC 0.700 GeneticVariation CLINVAR
dbSNP: rs1553316648
rs1553316648
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CC 0.700 GeneticVariation CLINVAR
dbSNP: rs1558355124
rs1558355124
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1558355124
rs1558355124
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
C 0.700 GeneticVariation CLINVAR
dbSNP: rs200482683
rs200482683
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C4016901
Disease:
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs200587413
rs200587413
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C4016901
Disease:
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs74315342
rs74315342
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C0445118
Disease:
Nephrotic range proteinuria
T 0.700 CausalMutation CLINVAR
dbSNP: rs74315345
rs74315345
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
A 0.700 CausalMutation CLINVAR