rs759304648, GSN

N. diseases: 9
Disease: Amyloidosis, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.020 GeneticVariation BEFREE A point mutation (G654A) in the gelsolin gene causes a dominantly inherited systemic amyloidosis called familial amyloidosis of the Finnish type (FAF). 10463954 1999
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.020 GeneticVariation BEFREE Identification of the circulating amyloid precursor and other gelsolin metabolites in patients with G654A mutation in the gelsolin gene (Finnish familial amyloidosis): pathogenetic and diagnostic implications. 9354764 1997