rs776423109, C3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
0.010 GeneticVariation BEFREE In addition, the frequency of at-risk FH and MCP haplotypes was significantly higher in the R139W-aHUS patients, compared with normal donors or to healthy carriers. 22246034 2012
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.010 GeneticVariation BEFREE This functional consequence of R139W-C3 resulted from the formation of a hyperactive C3 convertase. 22246034 2012