DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: MYBPC3 ×

Results per page

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
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		6
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs36211723	MYBPC3	0.851	0.080	11	47338520	missense variant	C/G;T	snv	1.6E-05		5
rs397516042	MYBPC3	0.827	0.120	11	47332075	stop gained	G/A	snv	8.1E-06	7.0E-06	5
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs200411226	MYBPC3	0.851	0.080	11	47342718	missense variant	C/T	snv	2.4E-05	4.2E-05	4
rs397516074	MYBPC3	0.827	0.120	11	47348424	missense variant	C/T	snv	1.7E-05	4.2E-05	4
rs397516037	MYBPC3	0.851	0.120	11	47332189	stop gained	G/A	snv	8.0E-06		4
rs397515937	MYBPC3	0.851	0.080	11	47339792	splice acceptor variant	T/C	snv			4
rs573916965	MYBPC3	0.827	0.080	11	47346297	stop gained	C/A;T	snv	2.5E-04		4
rs397516029	MYBPC3	0.882	0.080	11	47332569	frameshift variant	G/-;GG	delins	4.0E-06		4
rs397516083	MYBPC3	0.851	0.080	11	47346379	intron variant	C/T	snv		2.1E-05	4
rs397515963	MYBPC3	0.851	0.080	11	47337729	frameshift variant	-/C	delins		2.1E-05	4
rs397515905	MYBPC3	0.851	0.080	11	47342719	missense variant	G/A;C;T	snv	4.0E-06; 8.0E-06		4
rs373746463	MYBPC3	0.851	0.080	11	47333189	splice region variant	C/A;G;T	snv	1.8E-05; 4.4E-06		4
rs1060499604	MYBPC3	0.851	0.080	11	47339323	splice donor variant	C/A;T	snv	4.0E-06		4
rs387906397	MYBPC3	0.851	0.080	11	47333192	splice donor variant	A/C;G	snv			4
rs727503172	MYBPC3	0.882	0.080	11	47333236	frameshift variant	C/-	del			4
rs375882485	MYBPC3	0.827	0.080	11	47342698	missense variant	G/A	snv	4.0E-05	9.8E-05	4
rs397515990	MYBPC3	0.851	0.080	11	47335082	frameshift variant	AG/-	del		7.0E-06	4
rs727503203	MYBPC3	0.882	0.080	11	47342929	frameshift variant	GG/-;GGG	delins			4
rs397516028	MYBPC3	1.000	0.080	11	47332594	missense variant	A/G	snv			3
rs397515960	MYBPC3	0.925	0.080	11	47337791	frameshift variant	-/C	delins			3