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: 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