DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Malignant hyperpyrexia due to anesthesia ×

Variants associated to the Gene: RYR1 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs118192170	RYR1	0.882	0.120	19	38584989	missense variant	T/A;C	snv			1
rs146876145	RYR1	0.925	0.040	19	38586140	missense variant	C/T	snv	2.8E-05	2.1E-05	1