Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231435
rs606231435
ATP1A3
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.720 CausalMutation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.710 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.710 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518796
rs1057518796
SYNGAP1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518936
rs1057518936
PNPLA6
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518965
rs1057518965
ATM
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1114167423
rs1114167423
APTX
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255

2017
dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs137853066
rs137853066
KCNJ10
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs141659620
rs141659620
SPG7
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs145465528
rs145465528
LAMA2
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs149595793
rs149595793
DLG3
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554555063
rs1554555063
TMEM67
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554768245
rs1554768245
SYNE1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1554943158
rs1554943158
DEAF1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		C 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: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
dbSNP: rs1561515242
rs1561515242
CAMK4
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR