Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1177373525
rs1177373525
OPA1 ; LOC102724808
0.010 GeneticVariation BEFREE The novel homozygous p.M797I POLG mutation is responsible for MNGIE combined to optic atrophy and mtDNA depletion in the two patients. 30395865

2019