Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs515726196
rs515726196
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
CUI: C2749861
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		C 0.800 CausalMutation CLINVAR
dbSNP: rs515726196
rs515726196
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
CUI: C2749861
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.800 GeneticVariation UNIPROT