SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893878
rs104893878
Entrez Id: 6622;644248
Gene Symbol: SNCA;SNCA-AS1
SNCA;SNCA-AS1
CUI: C0242422
Disease:
Parkinsonian Disorders
0.020 GeneticVariation BEFREE Six α-synuclein (aSyn) point mutations are currently known to be associated with familial parkinsonism: A30P, E46K, H50Q, G51D, A53E, and A53T. 30605594 2019
dbSNP: rs104893878
rs104893878
Entrez Id: 6622;644248
Gene Symbol: SNCA;SNCA-AS1
SNCA;SNCA-AS1
CUI: C0242422
Disease:
Parkinsonian Disorders
0.020 GeneticVariation BEFREE Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. 11376188 2001