Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555703272
rs1555703272
SLC25A10
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018