C3, complement C3, 718

N. diseases: 343; N. variants: 49
Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909583
rs121909583
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		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