Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555565492
rs1555565492
RAI1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561515242
rs1561515242
CAMK4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561904557
rs1561904557
CSF1R
TGCC 0.700 CausalMutation CLINVAR

dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs181109321
rs181109321
TTPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs374434303
rs374434303
PNPLA6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs375817528
rs375817528
CAPN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs387906686
rs387906686
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs730882198
rs730882198
SPART
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs768823392
rs768823392
SPG7
A 0.700 CausalMutation CLINVAR

dbSNP: rs770703007
rs770703007
MAPK8IP3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs774277300
rs774277300
MRE11
A 0.700 CausalMutation CLINVAR

dbSNP: rs778543124
rs778543124
XPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs781934508
rs781934508
SURF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs782316919
rs782316919
SURF1
C 0.700 CausalMutation CLINVAR

dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312880
rs869312880
REEP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs2516839
rs2516839
USF1
0.010 GeneticVariation BEFREE However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning. 29598907

2018
dbSNP: rs562740927
rs562740927
PANK2
0.010 GeneticVariation BEFREE Through scanning the exons and flanking intronic sequences of PANK2 in patient and control subjects, we report a compound heterozygote c. 260A > G (NM_001324191) and c.405dupC (NM_153638) for PANK2 mutations in a Chinese patient with clinical manifestation of progressive prosopospasm, dysarthria and gait disturbance. 29962256

2018
dbSNP: rs1158702707
rs1158702707
PDGFB
0.010 GeneticVariation BEFREE We identified a novel c.260T > C, p.(Leu87Pro) XPR1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction. 27230854

2016
dbSNP: rs121918097
rs121918097
TTR
0.010 GeneticVariation BEFREE Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. 27238058

2016
dbSNP: rs374263073
rs374263073
LAMC2
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322

2010
dbSNP: rs63750009
rs63750009
PSEN1
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322

2010