rs28939068, CST3

N. diseases: 9
Disease: Cerebral Amyloid Angiopathy, Hereditary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebral Amyloid Angiopathy, Hereditary
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
0.010 GeneticVariation BEFREE A cystatin C variant with L68Q substitution and a truncation of 10 NH2-terminal residues is the major constituent of the amyloid deposited in the cerebral vasculature of patients with the Icelandic form of hereditary cerebral hemorrhage with amyloidosis (HCHWA-I). 9565605 1998