Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7439366
rs7439366
UGT2B7
0.010 GeneticVariation BEFREE In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008). 22676193

2012
dbSNP: rs76732092
rs76732092
GTF2H1
0.010 GeneticVariation BEFREE However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age. 26108367

2015
dbSNP: rs76763715
rs76763715
GBA
0.010 GeneticVariation BEFREE There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all. 25111979

2014
dbSNP: rs786205232
rs786205232
KCNA2
0.010 GeneticVariation BEFREE KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. 27733563

2016
dbSNP: rs80338777
rs80338777
CACNA1S
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: rs80356727
rs80356727
TARDBP
0.010 GeneticVariation BEFREE However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age. 26108367

2015
dbSNP: rs900147
rs900147 		0.010 GeneticVariation BEFREE Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3.44 × 10(-4)) than postural instability and gait difficulty (PIGD) cases (P = 6.06 × 10(-2)). 26507264

2015
dbSNP: rs1057518839
rs1057518839
MPZ
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
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: rs138008832
rs138008832
PDGFRB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs139194636
rs139194636
WARS2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1421405659
rs1421405659
MYBPC1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs146170087
rs146170087
C19orf12
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569548274
rs1569548274
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs200455852
rs200455852
ASAH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs201893408
rs201893408
TMEM67
C 0.700 GeneticVariation CLINVAR

dbSNP: rs2230288
rs2230288
GBA
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs515726205
rs515726205
C19orf12
T 0.700 CausalMutation CLINVAR

dbSNP: rs564856283
rs564856283
MYBPC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777721
rs587777721
SCN8A
A 0.700 CausalMutation CLINVAR

dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 CausalMutation CLINVAR

dbSNP: rs752362727
rs752362727
TMEM67
T 0.700 GeneticVariation CLINVAR