NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Focal glomerulosclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs2071327
rs2071327
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis 		0.010 GeneticVariation BEFREE The frequencies of the four synonymous mutations (c.C294T [p.I98I], c.C2223T [p.T741 T], c.C2289T [p.V763 V], c.G3315A [p.S1105S]) were much higher in FSGS patients than in controls. 31216994 2019
dbSNP: rs4806213
rs4806213
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