SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Disease: Autosomal Dominant Parkinsonism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893877
rs104893877
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
CUI: C0752098
Disease:
Autosomal Dominant Parkinsonism 		0.010 GeneticVariation BEFREE A specific mutation (A53T) in the encoding region for alpha-synuclein has been identified in a large multigenerational family with an autosomal dominant parkinsonism known as the Contursi kindred. 9878203 1998