DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathies, C0878544

Source: ALL

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
rs8193036	IL17A	0.689	0.600	6	52185695	upstream gene variant	C/T	snv		0.72	21
rs397516784	CEP85L ; PLN	0.925	0.080	6	118558957	inframe deletion	AGA/-	delins		1.4E-05	4
rs193922668	DSP			6	7568551	inframe deletion	ATT/-	delins			1
rs751392310	MYL2			12	110919103	inframe deletion	CCT/-	delins		7.0E-06	1
rs267606782	EMD	0.925	0.120	X	154379485	start lost	A/G	snv			4
rs397516686	CRYAB ; HSPB2-C11orf52 ; HSPB2			11	111911722	start lost	C/T	snv	6.7E-05	2.8E-05	1
rs4641	LMNA	0.851	0.120	1	156137743	splice region variant	C/T	snv	0.26	0.21	6
rs397516077	MYBPC3	0.925	0.080	11	47347852	splice region variant	C/T	snv			3
rs501192	CASP1	0.925	0.200	11	105029658	splice region variant	C/T	snv	0.17	0.15	3
rs886037753	JUP	1.000	0.120	17	41769418	splice region variant	C/A;T	snv	4.2E-06; 4.2E-06		2
rs1565590176	PKP2			12	32850767	splice region variant	T/A	snv			1
rs1568344751	UQCRFS1	1.000	0.080	19	29208159	splice acceptor variant	C/G	snv			3
rs193922674	PKP2	0.925	0.080	12	32802557	splice acceptor variant	C/G	snv	3.2E-05	2.8E-05	3
rs397515903	MYBPC3	0.925	0.080	11	47342745	splice acceptor variant	C/G;T	snv	4.0E-06		3
rs368121566	MYBPC3	1.000	0.080	11	47347480	splice acceptor variant	C/A;T	snv			2
rs1559712733	TTN-AS1 ; TTN			2	178604300	splice acceptor variant	CCAGATCTAGAAATTAGA/AG	delins			1
rs202024436	CRYAB			11	111908969	splice acceptor variant	T/C	snv	3.6E-05	2.1E-05	1
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs1553707780	TTN-AS1 ; TTN	0.925	0.040	2	178616928	frameshift variant	T/-	del			4
rs397516029	MYBPC3	0.882	0.080	11	47332569	frameshift variant	G/-;GG	delins	4.0E-06		4
rs397516706	DSG2-AS1 ; DSG2	0.925	0.080	18	31546441	frameshift variant	AGAG/-;AG	delins			4
rs727503172	MYBPC3	0.882	0.080	11	47333236	frameshift variant	C/-	del			4
rs727503203	MYBPC3	0.882	0.080	11	47342929	frameshift variant	GG/-;GGG	delins			4