POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918054
rs121918054
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121918054
rs121918054
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		G 0.700 CausalMutation CLINVAR