Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR A calcium channel mutant mouse model of hypokalemic periodic paralysis. 23187123

2012
dbSNP: rs80338777
rs80338777
CACNA1S
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs80338777
rs80338777
CACNA1S
0.810 GeneticVariation UNIPROT Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277

2009
dbSNP: rs80338777
rs80338777
CACNA1S
0.810 GeneticVariation UNIPROT The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. 18162704

2007
dbSNP: rs80338777
rs80338777
CACNA1S
0.810 GeneticVariation UNIPROT Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. 17418573

2007
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family. 15726306

2005
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR [A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree]. 11808349

2001
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis. 11034874

2000
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H) 9512357

1998
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H. 9852570

1998
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. 9066893

1997
dbSNP: rs80338777
rs80338777
CACNA1S
0.810 GeneticVariation BEFREE In three families with hypokalemic periodic paralysis (HOPP) we have confirmed the presence of a missense mutation (arginine 528 to histidine) within the gene CACNL1A3 encoding the alpha 1 subunit of the L-type, voltage-sensitive calcium channel. 8845715

1996
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells. 8605978

1996
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. 7847370

1995
dbSNP: rs80338777
rs80338777
CACNA1S
0.810 GeneticVariation UNIPROT A calcium channel mutation causing hypokalemic periodic paralysis. 7987325

1994
dbSNP: rs80338777
rs80338777
CACNA1S
0.810 GeneticVariation UNIPROT Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. 8004673

1994
dbSNP: rs80338777
rs80338777
CACNA1S
T 0.810 CausalMutation CLINVAR A calcium channel mutation causing hypokalemic periodic paralysis. 7987325

1994