rs28930069(G;G)
From SNPedia
| Hypokalemic periodic paralysis risk |
| Is a | genotype |
| of | rs28930069 |
| Gene | CACNA1S |
| Chromosome | 1 |
| Position | 201,053,539 |
| mentioned | by |
| Magnitude | 5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 6.6 | Malignant Hyperthermia susceptibility |
| (G;G) | 5 | Hypokalemic periodic paralysis risk |
Assuming the orientation hasn't been flipped, this (G;G) genotype is associated with significant risk for hypokalemic periodic paralysis; see discussion at rs28930069. However, be wary of the ambiguous flip issue that may cause confusion for this SNP between (C;C) and (G;G) genotypes.
