Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs460897
rs460897
CFH
0.750 GeneticVariation BEFREE Renal transplantation in patients with the S1191L mutation of the CFH gene carries a high risk of failure due to recurrence of aHUS in the renal graft. 19856002

2010
dbSNP: rs460897
rs460897
CFH
0.750 GeneticVariation BEFREE We report the case of a 17-year-old girl with aHUS associated with a mutation in the gene for complement factor H (CFH; c.3572C>T, Ser1191Leu) who was highly dependent on plasma exchange. 19854549

2010
dbSNP: rs460897
rs460897
CFH
0.750 GeneticVariation BEFREE We describe a patient who, at 7 months of age, presented with aHUS associated with combined de novo complement factor H mutations (S1191L and V1197A) on the same allele. 18425537

2008
dbSNP: rs460897
rs460897
CFH
0.750 GeneticVariation BEFREE This hybrid encodes a protein product identical to a functionally significant CFH mutant (c.3572C>T, S1191L and c.3590T>C, V1197A) that has been previously described in association with aHUS. 17076561

2006
dbSNP: rs460897
rs460897
CFH
0.750 GeneticVariation BEFREE We describe monozygotic female twins who presented at 5 years of age with factor H-related (c.3572 > T; Ser1191Leu) atypical hemolytic uremic syndrome within months of each other. 16431247

2006
dbSNP: rs460897
rs460897
CFH
T 0.750 CausalMutation CLINVAR

dbSNP: rs460184
rs460184
CFH
0.730 GeneticVariation BEFREE We reported here the clinical course of aHUS patients with CFH mutations (p.Glu936Asp, Val 1197Ala) and a novel mutation (Glu927Lys) which caused  previously defined aHUS. 31705748

2019
dbSNP: rs460184
rs460184
CFH
0.730 GeneticVariation BEFREE We describe a patient who, at 7 months of age, presented with aHUS associated with combined de novo complement factor H mutations (S1191L and V1197A) on the same allele. 18425537

2008
dbSNP: rs460184
rs460184
CFH
0.730 GeneticVariation BEFREE This hybrid encodes a protein product identical to a functionally significant CFH mutant (c.3572C>T, S1191L and c.3590T>C, V1197A) that has been previously described in association with aHUS. 17076561

2006
dbSNP: rs460184
rs460184
CFH
C 0.730 CausalMutation CLINVAR

dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. 28056875

2017
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience. 25899302

2016
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. 26559391

2016
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome. 26307634

2015
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri. 24944786

2014
dbSNP: rs777787526
rs777787526
DGKE ; C17orf67
T 0.700 CausalMutation CLINVAR Phenotypic expansion of DGKE-associated diseases. 24511134

2014
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. 23431077

2013
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. 23731345

2013
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133

2010
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. 17089378

2007
dbSNP: rs769742294
rs769742294
CD46
G 0.700 GeneticVariation CLINVAR Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. 16762990

2006
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
A 0.700 GeneticVariation CLINVAR

dbSNP: rs148605410
rs148605410
DGKE ; C17orf67
A 0.700 GeneticVariation CLINVAR

dbSNP: rs312262695
rs312262695
TRIM25 ; DGKE
C 0.700 GeneticVariation CLINVAR