rs1061170, CFH

N. diseases: 72
Disease: Thrombotic Microangiopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombotic Microangiopathies
CUI: C2717961
Disease: Thrombotic Microangiopathies
0.010 GeneticVariation BEFREE Subsequent tests revealed elevated serum levels of soluble C5b-9, and genetic testing revealed compound heterozygous c.184G > A (Val62Ile) and c.1204T > C (Tyr402His) single-nucleotide polymorphisms in complement factor H.We encountered a case of complement-mediated TMA accompanied by DIC, which was successfully treated with eculizumab. 28178155 2017