Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1043679457
rs1043679457
ERCC8
G 0.700 CausalMutation CLINVAR

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: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518936
rs1057518936
PNPLA6
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1114167423
rs1114167423
APTX
A 0.700 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255

2017
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: rs1217391623
rs1217391623
SPG7
T 0.700 CausalMutation CLINVAR

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: rs121918358
rs121918358
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs141659620
rs141659620
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
A 0.700 GeneticVariation CLINVAR

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: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
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: rs1555565492
rs1555565492
RAI1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555817157
rs1555817157
ABHD12
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
dbSNP: rs1561515242
rs1561515242
CAMK4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561904557
rs1561904557
CSF1R
TGCC 0.700 CausalMutation CLINVAR