rs201106962, SNCA

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE Recently, a new missense mutation (H50Q) in α-Syn was described in patients with a familial form of PD and dementia. 24936070 2014
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia. 23457019 2013