Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894103
rs104894103
APTX
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 GeneticVariation BEFREE CoQ10 deficiency has been identified in fibroblasts and muscle of AOA1 patients carrying the common W279X mutation, and aprataxin has been localized to mitochondria in neuroblastoma cells, where it enhances preservation of mitochondrial function. 25976310

2015