Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767245071
rs767245071
TYMP
G 0.700 CausalMutation CLINVAR A second MNGIE patient without typical mitochondrial skeletal muscle involvement. 20232099

2010
dbSNP: rs767245071
rs767245071
TYMP
G 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004
dbSNP: rs767245071
rs767245071
TYMP
G 0.700 CausalMutation CLINVAR MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. 14757860

2004