rs104893875
|
|
T |
0.860 |
CausalMutation |
CLINVAR |
|
|
|
rs104893877
|
|
T |
0.760 |
CausalMutation |
CLINVAR |
|
|
|
rs104893936
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
rs104893937
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
rs76763715
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs104886460
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064651
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs75822236
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs78973108
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80356769
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80356771
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104893877
|
|
|
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 |
rs77369218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
|
31299418 |
2019 |
rs1330229174
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance.
|
28911198 |
2017 |
rs104893875
|
|
|
0.860 |
GeneticVariation |
BEFREE |
An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance.
|
28911198 |
2017 |
rs104893937
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Furthermore, two missense mutations (P123H and V70M) of beta-syn were recently identified in DLB.
|
19711118 |
2009 |
rs104893936
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Furthermore, two missense mutations (P123H and V70M) of beta-syn were recently identified in DLB.
|
19711118 |
2009 |
rs1342971994
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, two missense mutations (P123H and V70M) of beta-syn were recently identified in DLB.
|
19711118 |
2009 |
rs777296100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we found that the short structural variant rs777296100-polyT was moderately associated with DLB but not with PD.
|
28431219 |
2017 |
rs12734374
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.
|
31065058 |
2019 |
rs429358
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.
|
31065058 |
2019 |
rs429358
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.
|
25188341 |
2014 |
rs104893877
|
|
|
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 |
rs35749011
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
|
29263008 |
2018 |
rs429358
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
|
29263008 |
2018 |