rs28939068, CST3

N. diseases: 9
Disease: Decreased Concentration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Decreased Concentration
CUI: C3899403
Disease: Decreased Concentration
0.010 GeneticVariation BEFREE In hereditary cystatin C amyloid angiopathy (HCCAA), presence of the Leu68 --> Gln substitution in cystatin C is coupled to a decreased concentration of this major cysteine proteinase inhibitor in cerebrospinal fluid and leads to its amyloid deposition in the brain. 9860845 1998