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rs28930068(A;A)

From SNPedia

Hypokalemic periodic paralysis risk
Is agenotype
ofrs28930068
GeneCACNA1S
Chromosome1
Position201,053,538
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(A;A) 5 Hypokalemic periodic paralysis risk
(A;G) 3.5 Hypokalemic periodic paralysis risk
(G;G) 0 common in clinvar

Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant skeletal muscle disorder, so carriers of even one rs28930068(G) allele are at risk for this disorder.