Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801086
rs1801086
RYR1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs1801086
rs1801086
RYR1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs1801086
rs1801086
RYR1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs1801086
rs1801086
RYR1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 14870754

2004