Disease: Hypokalemic Periodic Paralysis, Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338785
rs80338785
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		C 0.810 CausalMutation CLINVAR
dbSNP: rs80338785
rs80338785
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		T 0.810 CausalMutation CLINVAR
dbSNP: rs80338789
rs80338789
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121908555
rs121908555
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs527236148
rs527236148
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs527236148
rs527236148
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs527236150
rs527236150
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80338784
rs80338784
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80338788
rs80338788
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908547
rs121908547
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908552
rs121908552
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80338957
rs80338957
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80338962
rs80338962
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886041805
rs886041805
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs80338785
rs80338785
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.810 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs80338789
rs80338789
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.810 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs121908555
rs121908555
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.800 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs527236148
rs527236148
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.800 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs527236150
rs527236150
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.800 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs80338784
rs80338784
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.800 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs80338788
rs80338788
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.800 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs80338785
rs80338785
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.810 GeneticVariation UNIPROT Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. 10944223 2000
dbSNP: rs80338785
rs80338785
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.810 GeneticVariation UNIPROT Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. 10851391 2000