rs778573169, POLG

N. diseases: 2
Disease: Alpers Syndrome (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
0.700 CausalMutation CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405 2011