Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893875
rs104893875
SNCA
T 0.860 CausalMutation CLINVAR

dbSNP: rs104893877
rs104893877
SNCA
T 0.760 CausalMutation CLINVAR

dbSNP: rs104893936
rs104893936
SNCB
T 0.730 CausalMutation CLINVAR

dbSNP: rs104893937
rs104893937
SNCB
T 0.730 CausalMutation CLINVAR

dbSNP: rs76763715
rs76763715
GBA
C 0.710 CausalMutation CLINVAR

dbSNP: rs104886460
rs104886460
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064651
rs1064651
GBA
G 0.700 CausalMutation CLINVAR

dbSNP: rs75822236
rs75822236
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs78973108
rs78973108
GBA
T 0.700 CausalMutation CLINVAR

dbSNP: rs80356769
rs80356769
GBA
A 0.700 CausalMutation CLINVAR

dbSNP: rs80356771
rs80356771
GBA
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893877
rs104893877
SNCA
0.760 GeneticVariation BEFREE In addition, we have sequenced exon 4 of this gene in 5 cases of familial disease and have screened for the specific mutation (A53T) in a 40 cases of idiopathic Parkinson's disease, 3 cases of multisystem atrophy, and 15 cases of Lewy body dementia. 9506559

1998
dbSNP: rs104893877
rs104893877
SNCA
0.760 GeneticVariation BEFREE The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease. 10934251

2000
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.030 GeneticVariation BEFREE The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease. 10934251

2000
dbSNP: rs104893877
rs104893877
SNCA
0.760 GeneticVariation BEFREE Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75]. 12719631

2003
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.030 GeneticVariation BEFREE Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75]. 12719631

2003
dbSNP: rs104893875
rs104893875
SNCA
0.860 GeneticVariation UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719

2004
dbSNP: rs104893875
rs104893875
SNCA
0.860 GeneticVariation BEFREE The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719

2004
dbSNP: rs104893936
rs104893936
SNCB
0.730 GeneticVariation BEFREE Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene. 15365127

2004
dbSNP: rs104893937
rs104893937
SNCB
0.730 GeneticVariation BEFREE Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene. 15365127

2004
dbSNP: rs1342971994
rs1342971994
SNCA
0.020 GeneticVariation BEFREE Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene. 15365127

2004
dbSNP: rs104893875
rs104893875
SNCA
0.860 GeneticVariation BEFREE Recently, a third missense mutation (E46K) in alpha-synuclein was described in an inherited form of dementia with Lewy bodies. 15498564

2004
dbSNP: rs104893877
rs104893877
SNCA
0.760 GeneticVariation BEFREE Missense mutations (A30P and A53T) in alpha-synuclein and the overproduction of the wild-type protein cause familial forms of Parkinson's disease and dementia with Lewy bodies. 15498564

2004
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.030 GeneticVariation BEFREE Missense mutations (A30P and A53T) in alpha-synuclein and the overproduction of the wild-type protein cause familial forms of Parkinson's disease and dementia with Lewy bodies. 15498564

2004
dbSNP: rs104893877
rs104893877
SNCA
0.760 GeneticVariation BEFREE Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene. 15981014

2005