rs121918263, REEP1

N. diseases: 2
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
0.010 GeneticVariation BEFREE A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. 19034539 2009