Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777052
rs587777052
Entrez Id: 1938
Gene Symbol: EEF2
EEF2
CUI: C1836395
Disease:
SPINOCEREBELLAR ATAXIA 26 		0.800 GeneticVariation UNIPROT A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. 23001565 2012
dbSNP: rs587777052
rs587777052
Entrez Id: 1938
Gene Symbol: EEF2
EEF2
CUI: C1836395
Disease:
SPINOCEREBELLAR ATAXIA 26 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs587777052
rs587777052
Entrez Id: 1938
Gene Symbol: EEF2
EEF2
CUI: C1836395
Disease:
SPINOCEREBELLAR ATAXIA 26 		T 0.800 CausalMutation CLINVAR