Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893895
rs104893895
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894193
rs104894193
T 0.700 CausalMutation CLINVAR

dbSNP: rs869320717
rs869320717
G 0.700 CausalMutation CLINVAR

dbSNP: rs28930069
rs28930069
0.010 GeneticVariation BEFREE We analyzed the role of the three known CACNA1S gene mutations (R528H, R1239H, and R1239G) in Chinese patients, including two FPP families, 36 TPP patients, 12 SPP patients, and their relatives. 15711422

2005

dbSNP: rs80338777
rs80338777
0.010 GeneticVariation BEFREE Patients with FPP have R528H mutations in the CACNA1S gene. 15711422

2005