Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755320
rs61755320
SPG7
0.720 GeneticVariation BEFREE Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, <i>p</i> < 0.05) and showed ataxia at onset (<i>p</i> < 0.05). 31068484

2019
dbSNP: rs61755320
rs61755320
SPG7
0.720 GeneticVariation BEFREE The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. 30098094

2019
dbSNP: rs61755320
rs61755320
SPG7
T 0.720 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1135401778
rs1135401778
BPTF
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs121918358
rs121918358
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs752298579
rs752298579
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs1057518988
rs1057518988
GRIN2B
C 0.700 GeneticVariation CLINVAR

dbSNP: rs138249161
rs138249161
POLR3B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553281318
rs1553281318
COQ8A
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1553878395
rs1553878395
SEPSECS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs672601362
rs672601362
KIF1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs672601370
rs672601370
KIF1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882198
rs730882198
SPART
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs730882209
rs730882209
SETX
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs730882234
rs730882234
PTRH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs797046006
rs797046006
SPTBN2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs876661219
rs876661219
GRIN2B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs113994097
rs113994097
POLG
0.030 GeneticVariation BEFREE In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. 20153822

2010
dbSNP: rs113994097
rs113994097
POLG
0.030 GeneticVariation BEFREE We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss. 18321754

2008
dbSNP: rs113994097
rs113994097
POLG
0.030 GeneticVariation BEFREE The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. 17300808

2007
dbSNP: rs121908212
rs121908212
CACNA1A
0.020 GeneticVariation BEFREE Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. 28856914

2018
dbSNP: rs771578775
rs771578775
COQ8A
0.020 GeneticVariation BEFREE A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels. 21873089

2012