rs118192168(A;A)
From SNPedia
| likely severe central core disease |
| Is a | genotype |
| of | rs118192168 |
| Gene | RYR1 |
| Chromosome | 19 |
| Position | 38,580,403 |
| mentioned | by |
| Magnitude | 5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | likely severe central core disease |
| (A;G) | 3 | malignant hyperthermia; central core disease (possible) |
| (G;G) | 0 | common in clinvar |
Homozygous recessive for a mutation associated with congenital myopathies.
