Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34637584
rs34637584
0.010 GeneticVariation BEFREE We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. 17151837

2007

dbSNP: rs1045642
rs1045642
0.010 GeneticVariation BEFREE No statistically significant correlation between MDR1 gene polymorphism C3435T and tremor was found. 15886424

2006

dbSNP: rs35986369
rs35986369
0.010 GeneticVariation BEFREE Transgenic mice expressing wild mouse and mutant human A30P alpha-synuclein, Tg5093 mice (Tg), show a progressive motor disorder characterized by tremor, rigidity, and dystonia, accompanied by accumulation of alpha-synuclein in the soma and neurites and by a conspicuous gliosis beginning in the hippocampal formation at the age of 7 to 8 months and spreading throughout the CNS. 15099020

2004

dbSNP: rs63750756
rs63750756
0.010 GeneticVariation BEFREE Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation. 12573870

2003

dbSNP: rs80338777
rs80338777
0.010 GeneticVariation BEFREE Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutation as the cause of tremor or epilepsy in this kindred. 11034874

2000

dbSNP: rs104893878
rs104893878
0.020 GeneticVariation BEFREE Transgenic mice expressing wild mouse and mutant human A30P alpha-synuclein, Tg5093 mice (Tg), show a progressive motor disorder characterized by tremor, rigidity, and dystonia, accompanied by accumulation of alpha-synuclein in the soma and neurites and by a conspicuous gliosis beginning in the hippocampal formation at the age of 7 to 8 months and spreading throughout the CNS. 15099020

2004

dbSNP: rs104893878
rs104893878
0.020 GeneticVariation BEFREE High expression of alpha-synuclein A30P in the Tg5093 line was associated with a progressive motor disorder with rigidity, dystonia, gait impairment, and tremor. 12498958

2003

dbSNP: rs1057524157
rs1057524157
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017

dbSNP: rs1057524157
rs1057524157
T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017

dbSNP: rs1057518839
rs1057518839
MPZ
C 0.700 GeneticVariation CLINVAR

dbSNP: rs138008832
rs138008832
A 0.700 GeneticVariation CLINVAR

dbSNP: rs139194636
rs139194636
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1421405659
rs1421405659
C 0.700 GeneticVariation CLINVAR

dbSNP: rs146170087
rs146170087
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554317002
rs1554317002
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569548274
rs1569548274
T 0.700 CausalMutation CLINVAR

dbSNP: rs200455852
rs200455852
G 0.700 CausalMutation CLINVAR

dbSNP: rs201893408
rs201893408
C 0.700 GeneticVariation CLINVAR

dbSNP: rs2230288
rs2230288
GBA
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs397514698
rs397514698
T 0.700 CausalMutation CLINVAR

dbSNP: rs515726205
rs515726205
T 0.700 CausalMutation CLINVAR

dbSNP: rs564856283
rs564856283
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777721
rs587777721
A 0.700 CausalMutation CLINVAR

dbSNP: rs606231435
rs606231435
T 0.700 CausalMutation CLINVAR

dbSNP: rs752362727
rs752362727
T 0.700 GeneticVariation CLINVAR