Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518936
rs1057518936
PNPLA6
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553878395
rs1553878395
SEPSECS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555475794
rs1555475794
STUB1 ; JMJD8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555507479
rs1555507479
GNAO1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561515242
rs1561515242
CAMK4
A 0.700 GeneticVariation 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: rs730882198
rs730882198
SPART
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs748787734
rs748787734
TUBB4A
C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
dbSNP: rs770703007
rs770703007
MAPK8IP3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs781934508
rs781934508
SURF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs104894107
rs104894107
FXN
0.010 GeneticVariation BEFREE In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. 9989622

1999
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: rs142157346
rs142157346
FXN
0.010 GeneticVariation BEFREE In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. 9989622

1999
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: rs28933385
rs28933385
PRNP
0.010 GeneticVariation BEFREE The 58-year-old patient with the E200K mutation coupled to the 129MV codon had gait disturbance, dysarthria, agitation, and ataxic gait, and progressed rapidly to death 3 months from the first onset of symptoms. 19698114

2009
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