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rs794727683

From SNPedia

ClinVar
Risk rs794727683(;)
Alt rs794727683(;)
Reference rs794727683(CAGCCAAAGATGT;CAGCCAAAGATGT)
Significance Pathogenic
Disease Malignant hyperthermia Central core disease
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 Central core disease
Reversed 0
HGVS NC_000019.9:g.38991479_38991491delCAAAGATGTCAGC
CLNSRC
CLNACC RCV000178616.1, RCV000178617.1,