Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
TTR
0.020 GeneticVariation BEFREE Vitreous amyloid deposits are one of the most common ocular manifestations of familial amyloidosis ATTR V30M (FAP-I), which can be the only manifestation of the disease and can appear even after liver transplantation. 21358362

2011

dbSNP: rs28933979
rs28933979
TTR
0.020 GeneticVariation BEFREE Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. 19709674

2009

dbSNP: rs28939068
rs28939068
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
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

dbSNP: rs121909211
rs121909211
0.010 GeneticVariation BEFREE A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation. 21447988

2011

dbSNP: rs1434458385
rs1434458385
0.010 GeneticVariation BEFREE A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation. 21447988

2011

dbSNP: rs63750579
rs63750579
APP
0.010 GeneticVariation BEFREE The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months. 20641005

2010

dbSNP: rs121913547
rs121913547
LYZ
0.010 GeneticVariation BEFREE Formation of amyloid deposits from the Ile56Thr or Asp67His variants of human lysozyme is a hallmark of autosomal hereditary systemic amyloidosis. 15155566

2004

dbSNP: rs753737986
rs753737986
APP
0.010 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: rs1052006472
rs1052006472
0.010 GeneticVariation BEFREE Congo red staining of the H626R-LCD cornea showed amyloid deposits in the subepithelial and stromal layers. 12770961

2003

dbSNP: rs74315409
rs74315409
0.010 GeneticVariation BEFREE Susceptibility varied considerably depending on prions inoculated: highly susceptible to MM1 and MV1 types of sporadic Creutzfeldt-Jakob disease (CJD), developing disease within approximately 150 days, familial CJD with M232R mutation, and dura graft-associated CJD (dCJD) without amyloid plaque; less susceptible to MM2-type sporadic CJD and variant CJD, with some mice lacking any sign of transmission; and totally resistant to VV2 type sporadic CJD and dCJD with amyloid plaque. 14633630

2003

dbSNP: rs121918097
rs121918097
TTR
0.010 GeneticVariation BEFREE Brain specimens showed that the leptomeningeal vessels walls were thickened by amyloid deposits, and sequencing of the TTR exons showed a heterozygous single base-pair transition from G to A (codon 53), resulting in a glycine for glutamic acid substitution (G53E). 11445644

2001