CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
Disease: Cerebral Amyloid Angiopathy, Hereditary ×
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: 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