CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
Disease: Plaque, Amyloid ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
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
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
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