rs1164174661, CACNA1A

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Torticollis
CUI: C0040485
Disease: Torticollis
0.010 GeneticVariation BEFREE Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. 18644040 2008
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
0.010 GeneticVariation BEFREE Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. 18644040 2008
Benign paroxysmal vertigo of childhood
0.010 GeneticVariation BEFREE Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. 18644040 2008