rs28939068, CST3

N. diseases: 9
Disease: Plaque, Amyloid ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
0.020 GeneticVariation BEFREE We have generated lines of transgenic mice expressing either wild-type human cystatin C or the Leu68Gln variant that forms amyloid deposits in the cerebral vessels of Icelandic patients with hereditary cerebral hemorrhage, under control sequences of the human cystatin C gene. 14742906 2004
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
0.020 GeneticVariation BEFREE Besides carrying the L68Q substitution, cystatin C in amyloid deposits isolated from patients is N-terminally truncated by 10 amino acids. 11934268 2002