Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). 16612335

2006
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182

2004
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. 12020532

2002
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. 11170895

2001
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. 11170896

2001
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. 11158219

2001
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT Molecular basis for factor H and FHL-1 deficiency in an Italian family. 10803850

2000
dbSNP: rs62625015
rs62625015
CFH
0.700 GeneticVariation UNIPROT Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. 9312129

1997