DisGeNET - a database of gene-disease associations

List of associated variants

Central Core Myopathy (disorder), C0751951

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
rs118192170	RYR1	0.882	0.120	19	38584989	missense variant	T/A;C	snv			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
rs118192174	RYR1	0.882	0.200	19	38499961	missense variant	T/A	snv	2.0E-05	2.1E-05	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
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
rs118192164	LOC107985290 ; RYR1	0.925	0.080	19	38525455	missense variant	C/T	snv			3
rs118192117	RYR1	0.882	0.160	19	38451846	missense variant	T/C	snv	4.0E-06		3
rs118192163	RYR1	0.882	0.120	19	38494565	missense variant	G/A;C;T	snv			3
rs193922839	RYR1	0.925	0.120	19	38534775	missense variant	G/A;C	snv	1.6E-05; 4.0E-06		3
rs367543058	RYR1	0.882	0.160	19	38519399	missense variant	T/G	snv	2.2E-05	4.9E-05	3
rs386833481	SLC26A3	0.882	0.200	7	107791226	missense variant	G/A;C	snv	1.2E-05; 1.6E-05		3
rs386833482	SLC26A3	0.882	0.200	7	107791226	frameshift variant	G/-	delins			3
rs1321220871	LMNA	0.925	0.120	1	156135300	missense variant	G/A;T	snv			2
rs104893991	RUNX2	0.925	0.120	6	45438040	missense variant	G/A	snv			2