DisGeNET - a database of gene-disease associations

List of associated variants

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5, C1866077

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
rs80338777	CACNA1S	0.827	0.200	1	201077915	missense variant	C/A;T	snv	1.2E-05		10
rs28930069	CACNA1S	0.882	0.200	1	201053539	missense variant	G/A;C	snv			5
rs1800559	CACNA1S	0.925	0.080	1	201060815	missense variant	C/A;T	snv	8.0E-06; 4.0E-06		3
rs28930068	CACNA1S	0.925	0.160	1	201053538	missense variant	C/T	snv	4.0E-06		3
rs80338779	CACNA1S	0.925	0.160	1	201066283	missense variant	C/A	snv			3
rs1553252746	CACNA1S	1.000		1	201091770	frameshift variant	G/-	delins			2
rs1558056376	CACNA1S	1.000		1	201050983	splice donor variant	C/G;T	snv			2
rs1558071742	CACNA1S	1.000		1	201076951	frameshift variant	T/-	delins			2
rs201998231	CACNA1S	1.000		1	201092011	stop gained	G/A	snv	4.0E-06	1.4E-05	2
rs762294904	CACNA1S	1.000		1	201077995	stop gained	G/A;T	snv	8.0E-06		2
rs550371466	LOC101929305 ; CACNA1S	1.000		1	201041534	stop gained	G/A;T	snv	9.2E-05; 4.0E-06		2