POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Ataxia ×
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: C0004134
Disease:
Ataxia 		0.010 GeneticVariation BEFREE The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. 17300808 2007