Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606959
rs267606959
POLG
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011
dbSNP: rs267606959
rs267606959
POLG
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010