Variant: rs28939068 

    present in Gene: CST3
    present in Chromosome: 20
    Position on Chromosome: 23635330
    Alleles of this Variant: A/T

rs28939068 in CST3 gene and Hereditary Cerebral Amyloid Angiopathy, Icelandic Type PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 1352269 1992 Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.

PMID 2541223 1989 Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases.