Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1026872132
rs1026872132
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1
0.010 GeneticVariation BEFREE Two missense mutations were found.One novel mutation in SCN1A, encoding α subunit of sodium channel, causing amino acid change M1500V localized to a region encoding inactivation loop between transmembrane domains III and IV of the channel, was detected in a female FHM patient. 26747084 2016