rs920832709, GSN

N. diseases: 4
Disease: Lattice corneal dystrophy Type II ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lattice corneal dystrophy Type II
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
0.020 GeneticVariation BEFREE Hereditary gelsolin-related amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T mutation in the gene coding for gelsolin, an actin-modulating protein. 10744159 2000
Lattice corneal dystrophy Type II
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
0.020 GeneticVariation BEFREE The present results and the previously detected gelsolin mutation G654T in Czech and Danish FAF patients suggest that nucleotide 654 may represent a mutation hot spot in the gelsolin gene. 7550233 1995