Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918050
rs121918050
POLG
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547

2009
dbSNP: rs121918050
rs121918050
POLG
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077

2003