Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1057518839
rs1057518839
MPZ
C 0.700 GeneticVariation CLINVAR

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

dbSNP: rs757600616
rs757600616
WARS2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs781939614
rs781939614
PEX11B
A 0.700 CausalMutation CLINVAR

dbSNP: rs781984979
rs781984979
PEX11B
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312713
rs869312713
ANKRD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
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
SNCA ; SNCA-AS1
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: rs34016896
rs34016896
LOC105374187
0.010 GeneticVariation BEFREE In subgroup analysis, compared with PD patients with initial symptom of tremor and HCs, the minor allele frequency of NMD3 rs34016896 in PD patients with initial symptoms of rigidity/bradykinesia was significantly lower. 29564728

2018