Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231453
rs606231453
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: rs606231453
rs606231453
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