RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Disease: Malignant hyperthermia susceptibility type 1 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192177
rs118192177
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs118192177
rs118192177
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		T 0.800 SusceptibilityMutation CLINVAR