CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Glomerulonephritis, Membranoproliferative ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1061170
rs1061170
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0017662
Disease:
Glomerulonephritis, Membranoproliferative 		0.010 GeneticVariation BEFREE We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). 22388616 2012
dbSNP: rs2274700
rs2274700
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0017662
Disease:
Glomerulonephritis, Membranoproliferative 		0.010 GeneticVariation BEFREE We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). 22388616 2012
dbSNP: rs800292
rs800292
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0017662
Disease:
Glomerulonephritis, Membranoproliferative 		0.010 GeneticVariation BEFREE We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). 22388616 2012