Disease: Familial Periodic Paralysis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894580
rs104894580
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C0030443
Disease:
Familial Periodic Paralysis 		0.010 GeneticVariation BEFREE Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of a kindred in which ventricular arrhythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segregated as autosomal dominant traits with sex-specific variable expressivity. 12148092 2002