DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

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
rs182798226	HLA-C ; HLA-B	0.925	0.080	6	31271285	missense variant	C/G;T	snv			2
rs374691452	DNAH8	0.925	0.120	6	38723443	missense variant	T/A;C	snv	4.2E-06; 2.5E-05		2
rs1391541448	DNAH8	1.000	0.080	6	38729980	missense variant	G/A	snv			1
rs794729138	PLN ; CEP85L	1.000	0.080	6	118558982	frameshift variant	-/TC	delins		7.0E-06	1
rs121908987	PRKAG2	0.742	0.200	7	151576412	missense variant	C/A;G;T	snv	4.0E-06		12
rs267606977	PRKAG2	0.851	0.120	7	151560613	missense variant	T/C	snv			4
rs1554401561	FLNC ; FLNC-AS1	1.000	0.080	7	128855243	missense variant	G/C	snv			1
rs199472948	KCNH2	1.000	0.080	7	150951531	missense variant	C/T	snv			1
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
rs121909374	MYBPC3	0.790	0.120	11	47342578	stop gained	C/A;G	snv	1.3E-05		7
rs36211723	MYBPC3	0.851	0.080	11	47338520	missense variant	C/G;T	snv	1.6E-05		5
rs375882485	MYBPC3	0.827	0.080	11	47342698	missense variant	G/A	snv	4.0E-05	9.8E-05	5
rs397515905	MYBPC3	0.851	0.080	11	47342719	missense variant	G/A;C;T	snv	4.0E-06; 8.0E-06		5
rs397516005	MYBPC3	0.827	0.120	11	47333566	stop gained	G/A	snv	8.4E-06	2.8E-05	5
rs397516042	MYBPC3	0.827	0.120	11	47332075	stop gained	G/A	snv	8.1E-06	7.0E-06	5
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs397516074	MYBPC3	0.827	0.120	11	47348424	missense variant	C/T	snv	1.7E-05	4.2E-05	5
rs573916965	MYBPC3	0.827	0.080	11	47346297	stop gained	C/A;T	snv	2.5E-04		5
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs1060499604	MYBPC3	0.851	0.080	11	47339323	splice donor variant	C/A;T	snv	4.0E-06		4
rs200411226	MYBPC3	0.851	0.080	11	47342718	missense variant	C/T	snv	2.4E-05	4.2E-05	4
rs2856655	MYBPC3	0.851	0.080	11	47337534	missense variant	C/G;T	snv	2.0E-05		4
rs373746463	MYBPC3	0.851	0.080	11	47333189	splice region variant	C/A;G;T	snv	1.8E-05; 4.4E-06		4
rs387906397	MYBPC3	0.851	0.080	11	47333192	splice donor variant	A/C;G	snv			4