Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909668
rs121909668
FUS
0.030 GeneticVariation BEFREE Using transgenic mice expressing a common FALS-associated FUS mutation (FUS-R521C mice), we found that mutant FUS proteins formed a stable complex with WT FUS proteins and interfered with the normal interactions between FUS and histone deacetylase 1 (HDAC1). 24509083

2014
dbSNP: rs121909668
rs121909668
FUS
0.030 GeneticVariation BEFREE Seven missense mutations (p.G191S, p.R216C, p.G225V, p.G230C, p.R234C, p.G507D and p.R521C</span>) were identified in nine patients (seven SALS and two FALS), and none in 500 healthy Italian controls. 19861302

2010
dbSNP: rs121909668
rs121909668
FUS
0.030 GeneticVariation BEFREE In one FALS proband, we identified a mutation (p.R521C) that was also present in her affected daughter. 20544928

2010