Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28930068
rs28930068
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients. 25213595 2015
dbSNP: rs28930068
rs28930068
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of patients with sporadic periodic paralysis. 21841462 2012
dbSNP: rs80338777
rs80338777
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR A calcium channel mutant mouse model of hypokalemic periodic paralysis. 23187123 2012
dbSNP: rs28930068
rs28930068
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. 19225109 2009
dbSNP: rs28930068
rs28930068
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. 17418573 2007
dbSNP: rs28930069
rs28930069
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		C 0.700 CausalMutation CLINVAR Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation. 18229654 2007
dbSNP: rs28930069
rs28930069
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		C 0.700 CausalMutation CLINVAR The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. 18162704 2007
dbSNP: rs28930069
rs28930069
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		C 0.700 CausalMutation CLINVAR A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G). 15716625 2005
dbSNP: rs80338777
rs80338777
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family. 15726306 2005
dbSNP: rs28930068
rs28930068
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis. 11555352 2001
dbSNP: rs80338777
rs80338777
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR [A case of familial hypokalemic periodic paralysis with hyperuricemia during paralytic attack and genetic analysis of the pedigree]. 11808349 2001
dbSNP: rs28930068
rs28930068
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis. 10639629 2000
dbSNP: rs80338777
rs80338777
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis. 11034874 2000
dbSNP: rs80338777
rs80338777
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 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
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H) 9512357 1998
dbSNP: rs80338777
rs80338777
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 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
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 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: rs28930068
rs28930068
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 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
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 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: rs28930069
rs28930069
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		C 0.700 CausalMutation CLINVAR Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. 8004673 1994
dbSNP: rs80338777
rs80338777
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR A calcium channel mutation causing hypokalemic periodic paralysis. 7987325 1994
dbSNP: rs1553252746
rs1553252746
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1558056376
rs1558056376
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1558071742
rs1558071742
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1800559
rs1800559
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
CUI: C1866077
Disease:
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 		T 0.700 SusceptibilityMutation CLINVAR