DisGeNET - a database of gene-disease associations

List of associated variants

Malignant hyperthermia susceptibility type 1, C2930980

Source: ALL

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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
rs118192162	RYR1	0.851	0.120	19	38455359	missense variant	A/C;G	snv			6
rs118192177	RYR1	0.851	0.160	19	38496283	missense variant	C/G;T	snv	2.0E-05		6
rs1568507354	RYR1	0.827	0.200	19	38502879	splice acceptor variant	G/A	snv			6
rs118192161	RYR1	0.882	0.120	19	38444211	missense variant	C/T	snv			5
rs118192172	RYR1	0.851	0.120	19	38457545	missense variant	C/G;T	snv	8.7E-05	1.1E-04	5
rs111436401	RYR1	0.851	0.160	19	38523116	splice donor variant	G/A	snv	4.0E-06		4
rs118192124	RYR1	0.851	0.120	19	38500636	missense variant	C/T	snv			4
rs118192140	RYR1	0.851	0.160	19	38573304	missense variant	C/T	snv	4.4E-05	4.2E-05	4
rs118192168	RYR1	0.882	0.120	19	38580403	missense variant	G/A	snv	1.6E-05	7.0E-06	4
rs118192176	RYR1	0.882	0.120	19	38494579	missense variant	G/A	snv			4
rs118192178	RYR1	0.882	0.120	19	38500898	missense variant	C/G;T	snv			4
rs121918592	RYR1	0.882	0.080	19	38448712	missense variant	G/A;C	snv			4
rs193922837	RYR1	0.851	0.160	19	38523211	splice region variant	C/G	snv	2.0E-05	9.8E-05	4
rs200563280	RYR1	0.882	0.160	19	38496466	stop gained	C/G;T	snv	4.0E-06; 1.6E-04		4
rs28933396	RYR1	0.882	0.120	19	38499997	missense variant	G/A;T	snv			4
rs377178986	RYR1	0.851	0.160	19	38543420	stop gained	C/A	snv	2.4E-05	3.5E-05	4
rs118192163	RYR1	0.882	0.120	19	38494565	missense variant	G/A;C;T	snv			3
rs118192175	RYR1	0.882	0.160	19	38494564	missense variant	C/T	snv	1.2E-05		3
rs121918593	RYR1	0.925	0.040	19	38499993	missense variant	G/A	snv	3.2E-05	5.6E-05	3
rs121918595	RYR1	0.925	0.040	19	38580094	missense variant	C/T	snv	4.0E-06		3
rs137933390	RYR1	0.882	0.080	19	38475335	missense variant	A/G	snv	2.7E-03	2.8E-03	3
rs147213895	RYR1	0.882	0.200	19	38499241	missense variant	A/G	snv	1.0E-03	1.0E-03	3
rs193922802	RYR1	0.925	0.040	19	38499655	missense variant	G/A	snv			3
rs118192116	RYR1	0.925	0.120	19	38451850	missense variant	C/G;T	snv	4.0E-06		2
rs118192153	RYR1	0.925	0.120	19	38585013	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2