Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041081
rs886041081
SLC25A4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. 27693233

2016