rs786200963, CACNA1A

N. diseases: 6
Disease: Episodic Ataxia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Episodic Ataxia
CUI: C1720189
Disease: Episodic Ataxia
0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015