rs869312966, SCN8A

N. diseases: 7
Disease: Central neuroblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Central neuroblastoma
CUI: C0700095
Disease: Central 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