Have questions? Visit https://www.reddit.com/r/SNPedia

rs118192168(A;A)

From SNPedia

likely severe central core disease
Is agenotype
ofrs118192168
GeneRYR1
Chromosome19
Position38,580,403
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(A;A) 5 likely severe central core disease
(A;G) 2 carrier for central core disease variant
(G;G) 0 common in clinvar

Homozygous recessive for a mutation associated with congenital myopathies.