POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
Entrez Id: 5428;102466983
Gene Symbol: POLG;MIR6766
POLG;MIR6766
CUI: C1843852
Disease:
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C1843852
Disease:
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		G 0.700 CausalMutation CLINVAR