Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909715
rs121909715
GSN
0.060 GeneticVariation BEFREE The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin. 1311922

1992

dbSNP: rs121909715
rs121909715
GSN
0.060 GeneticVariation BEFREE The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin. 1652889

1991

dbSNP: rs121909715
rs121909715
GSN
0.060 GeneticVariation BEFREE Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis. 10744159

2000

dbSNP: rs121909715
rs121909715
GSN
0.060 GeneticVariation BEFREE Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. 16258946

2006

dbSNP: rs121909715
rs121909715
GSN
0.060 GeneticVariation BEFREE Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced). 20937937

2011

dbSNP: rs121909715
rs121909715
GSN
0.060 GeneticVariation BEFREE Mutations (D187N/Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2). 29637772

2018