rs869312966, SCN8A

N. diseases: 7
Disease: Neuroblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.010 GeneticVariation BEFREE In contrast, the R1620L mutation associated with intellectual disability and autism-but not epilepsy-reduced Na+ current density in neuroblastoma cells and expectedly decreased neuronal firing. 30615093 2019