Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939068
rs28939068
CST3
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs28939068
rs28939068
CST3
0.810 GeneticVariation BEFREE However, the amyloid in HCHWA-I is made from a variant of cystatin C (L68Q) instead of the more common Abeta. 17963746

2007
dbSNP: rs28939068
rs28939068
CST3
0.810 GeneticVariation UNIPROT Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. 1352269

1992
dbSNP: rs28939068
rs28939068
CST3
0.810 GeneticVariation UNIPROT Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases. 2541223

1989
dbSNP: rs28939068
rs28939068
CST3
T 0.810 CausalMutation CLINVAR

dbSNP: rs753737986
rs753737986
APP
0.010 GeneticVariation BEFREE However, the amyloid in HCHWA-I is made from a variant of cystatin C (L68Q) instead of the more common Abeta. 17963746

2007