rs28930068(A;A)
From SNPedia
Hypokalemic periodic paralysis risk |
Is a | genotype |
of | rs28930068 |
Gene | CACNA1S |
Chromosome | 1 |
Position | 201,053,538 |
mentioned | by |
Magnitude | 5 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Hypokalemic periodic paralysis risk |
(A;G) | 6.6 | Malignant Hyperthermia susceptibility |
(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.