CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
Disease: Cerebral Amyloid Angiopathy ×
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: C0085220
Disease:
Cerebral Amyloid Angiopathy 		0.020 GeneticVariation BEFREE Cystatin C Leu68Gln variant is known to induce amyloid deposition in cerebral arterioles, resulting in Icelandic type cerebral amyloid angiopathy (CAA). 18508448 2008
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C0085220
Disease:
Cerebral Amyloid Angiopathy 		0.020 GeneticVariation BEFREE In Icelandic pedigrees a cystatin C mutation, glutamine 68 (L68Q), causes autosomal dominant cerebral amyloid angiopathy-related hemorrhage (CAAH). 10636160 2000