POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Mitochondrial DNA Depletion Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918044
rs121918044
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		C 0.700 CausalMutation CLINVAR