rs1057520918, CACNA1A

N. diseases: 11
Disease: Ataxia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ataxia
CUI: C0004134
Disease: Ataxia
0.010 GeneticVariation BEFREE A genotype-phenotype comparison of R1347Q mutation carriers revealed a wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy. 18400034 2008