NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1009762900
rs1009762900
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1054950770
rs1054950770
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516637
rs1057516637
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
TG 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516776
rs1057516776
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516918
rs1057516918
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516942
rs1057516942
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517021
rs1057517021
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517022
rs1057517022
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517275
rs1057517275
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517413
rs1057517413
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0032285
Disease:
Pneumonia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0011991
Disease:
Diarrhea
T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C2243051
Disease:
Large head (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0013604
Disease:
Edema
T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0033687
Disease:
Proteinuria
T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0003962
Disease:
Ascites
T 0.700 CausalMutation CLINVAR
dbSNP: rs113825926
rs113825926
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs114203578
rs114203578
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs114203578
rs114203578
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
G 0.800 GeneticVariation CLINVAR
dbSNP: rs114849139
rs114849139
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs114896482
rs114896482
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
A 0.700 GeneticVariation CLINVAR Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). 15086927 2004
dbSNP: rs114896482
rs114896482
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs114896482
rs114896482
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis
0.010 GeneticVariation BEFREE The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls. 31216994 2019