Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121913059
rs121913059
CFH
0.020 GeneticVariation BEFREE These findings were consistent with differences in the R1210C-independent overall risk for aHUS and AMD between mutation carriers developing one pathology or the other. 26376859

2016
dbSNP: rs121913059
rs121913059
CFH
0.020 GeneticVariation BEFREE These data are in accord with the 30% penetrance of aHUS in R1210C mutation carriers, as it seems that the presence of other genetic or environmental risk factors significantly contribute to the manifestation and severity of aHUS in these subjects. 18235085

2008
dbSNP: rs45574833
rs45574833
C4BPA ; LOC107985251
0.020 GeneticVariation BEFREE This did not support an association between the p.Arg240His C4BP polymorphism and predisposition to aHUS in the Spanish population. 19076829

2009
dbSNP: rs45574833
rs45574833
C4BPA ; LOC107985251
0.020 GeneticVariation BEFREE In this study, we report the first functional non-synonymous polymorphism in the complement inhibitor C4b-binding protein (C4BP) alpha-chain (c.719G>A; p.Arg240His), which is associated with aHUS. 18424762

2008
dbSNP: rs976333015
rs976333015
CFH
0.020 GeneticVariation BEFREE To address this, we expressed human CFH mutants in <i>Pichia pastoris</i> We found that recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH, whereas R53H-CFH, linked to atypical hemolytic uremic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I cofactor activity (CA). 28637873

2017
dbSNP: rs976333015
rs976333015
CFH
0.020 GeneticVariation BEFREE Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. 21270465

2011
dbSNP: rs1027208016
rs1027208016
CD46
0.010 GeneticVariation BEFREE The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7. 20108004

2010
dbSNP: rs1061170
rs1061170
CFH
0.010 GeneticVariation BEFREE The AMD Tyr402His polymorphism is structurally located at a hotspot for several aHUS mutations. 17089378

2007
dbSNP: rs1065489
rs1065489
CFH
0.010 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: rs117905900
rs117905900
CFB ; CYP21A2
0.010 GeneticVariation BEFREE The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7. 20108004

2010
dbSNP: rs1181467668
rs1181467668
CD46
0.010 GeneticVariation BEFREE The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7. 20108004

2010
dbSNP: rs121909583
rs121909583
C3
0.010 GeneticVariation BEFREE The penetrance of the C3 R570Q mutation to induce aHUS is incomplete and lower compared with mutations in other genes predisposing to the disease. 19590060

2009
dbSNP: rs121909585
rs121909585
C3
0.010 GeneticVariation BEFREE Herein, we show that, when transferred to mice, an aHUS-associated gain-of-function change (D1115N) to the complement-activation protein C3 results in aHUS. 30714990

2019
dbSNP: rs121909748
rs121909748
CFB ; CYP21A2
0.010 GeneticVariation BEFREE The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7. 20108004

2010
dbSNP: rs121913063
rs121913063
CFH
0.010 GeneticVariation BEFREE A total of 4 FH mutations, in SCR15 (C870R) and SCR20 (V1168E, E1198K, and E1198Stop) in patients with aHUS, were studied regarding their ability to allow complement activation on platelet surfaces. 18268093

2008
dbSNP: rs121918027
rs121918027
PLG
0.010 GeneticVariation BEFREE We concluded that, although carriers with PLG:p.Ala620Thr show low plasminogen activity, this is not a predisposing variant for aHUS and that individuals of dysplasminogenemia are not at significantly increased risk of aHUS. 27194432

2016
dbSNP: rs1221868049
rs1221868049
CFH
0.010 GeneticVariation BEFREE A total of 4 FH mutations, in SCR15 (C870R) and SCR20 (V1168E, E1198K, and E1198Stop) in patients with aHUS, were studied regarding their ability to allow complement activation on platelet surfaces. 18268093

2008
dbSNP: rs1226060948
rs1226060948
CFH
0.010 GeneticVariation BEFREE We also report that the novel aHUS-associated M823T variant is functionally impaired. 28941939

2018
dbSNP: rs1230304944
rs1230304944
CD46
0.010 GeneticVariation BEFREE In this study, we report three unrelated patients with an identical heterozygous mutation, G261D, in the FI heavy chain who developed severe aHUS at different time points in their lives. 17084897

2007
dbSNP: rs138675433
rs138675433
CFHR3
0.010 GeneticVariation BEFREE We also report the identification of a polymorphism in CFHR3 (c.721C>T; rs379370) that is associated with increased risk of aHUS (OR=1.78; CI 1.22-2.59; p=0.002), and is most frequently included in an extended risk haplotype spanning the CFH-CFHR3-CFHR1 genes. 26163426

2015
dbSNP: rs149474608
rs149474608
CFH
0.010 GeneticVariation BEFREE Two of the patients also had a heterozygous non-synonymous alteration in factor H (p.Q950H), reported previously in aHUS but not functionally tested. 25733390

2015
dbSNP: rs41348347
rs41348347
THBD
0.010 GeneticVariation BEFREE A causative mutation THBD p.D486Y was also identified in an aHUS patient. 25135378

2014
dbSNP: rs41400249
rs41400249
THBD
0.010 GeneticVariation BEFREE Four missense mutations, CFH p.V837I, p.Y1058H, p.V1060L and THBD p.R403K may predispose to aHUS manifestation; the remaining seven missense mutations were likely neutral. 25135378

2014
dbSNP: rs539992721
rs539992721
C3
0.010 GeneticVariation BEFREE The p.Lys65Gln is likely to be associated with aHUS after kidney transplantation and, therefore, might be an important prognostic factor. 22669319

2012