Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231451
rs606231451
TMEM240
0.810 GeneticVariation BEFREE We here report the first Japanese family with SCA21, in which all affected members examined carried a heterozygous c.509C > T:p.Pro170Leu variant in TMEM240. 29687291

2018
dbSNP: rs606231451
rs606231451
TMEM240
0.810 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs606231451
rs606231451
TMEM240
0.810 GeneticVariation UNIPROT TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513

2014
dbSNP: rs606231451
rs606231451
TMEM240
A 0.810 CausalMutation CLINVAR

dbSNP: rs606231451
rs606231451
TMEM240
A 0.810 GeneticVariation CLINVAR

dbSNP: rs606231453
rs606231453
TMEM240
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs606231454
rs606231454
TMEM240
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs606231455
rs606231455
TMEM240
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs606231453
rs606231453
TMEM240
0.800 GeneticVariation UNIPROT TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513

2014
dbSNP: rs606231454
rs606231454
TMEM240
0.800 GeneticVariation UNIPROT TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513

2014
dbSNP: rs606231455
rs606231455
TMEM240
0.800 GeneticVariation UNIPROT TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513

2014
dbSNP: rs606231453
rs606231453
TMEM240
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs606231454
rs606231454
TMEM240
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs606231455
rs606231455
TMEM240
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs606231453
rs606231453
TMEM240
A 0.800 CausalMutation CLINVAR

dbSNP: rs606231454
rs606231454
TMEM240
A 0.800 CausalMutation CLINVAR

dbSNP: rs606231455
rs606231455
TMEM240
A 0.800 CausalMutation CLINVAR

dbSNP: rs546291208
rs546291208
TMEM240
0.700 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs546291208
rs546291208
TMEM240
0.700 GeneticVariation UNIPROT TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513

2014
dbSNP: rs1045410944
rs1045410944
TMEM240
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231452
rs606231452
TMEM240
C 0.700 CausalMutation CLINVAR

dbSNP: rs864309664
rs864309664
SCYL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs864309665
rs864309665
SCYL1
C 0.700 CausalMutation CLINVAR

dbSNP: rs864309666
rs864309666
SCYL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs864309667
rs864309667
SCYL1
T 0.700 CausalMutation CLINVAR