Variant: rs104893878 

    present in Gene: SNCA;SNCA-AS1
    present in Chromosome: 4
    Position on Chromosome: 89835580
    Alleles of this Variant: C/G

rs104893878 in SNCA;SNCA-AS1 gene and PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) PMID 23457019 2013 Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

PMID 9462735 1998 Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.

PMID 9197268 1997 Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.

PMID 23427326 2013 A novel α-synuclein missense mutation in Parkinson disease.

PMID 24936070 2014 The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.

PMID 14755719 2004 The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.

PMID 25561023 2015 Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions.