Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547

2009
dbSNP: rs113994094
rs113994094
POLG
0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077

2003
dbSNP: rs113994094
rs113994094
POLG
A 0.800 CausalMutation CLINVAR