DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Dilated, C0007193

Disease: Cardiomyopathy, Dilated, 1g

Source: CLINVAR ×

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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
rs766265889	TTN-AS1 ; TTN	0.827	0.240	2	178535508	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs574660186	TTN ; TTN-AS1	0.807	0.200	2	178579702	stop gained	G/A;C	snv	1.6E-05	3.5E-05	7
rs397517689	TTN-AS1 ; TTN	0.882	0.160	2	178574530	stop gained	G/A	snv	4.0E-06		5
rs397517735	TTN ; TTN-AS1	0.925	0.160	2	178559309	splice donor variant	A/T	snv	4.4E-06	4.9E-05	4
rs72646846	TTN ; TTN-AS1	0.925	0.160	2	178589849	stop gained	G/A	snv	7.6E-05	6.3E-05	4
rs72648250	TTN-AS1 ; TTN	0.882	0.160	2	178548460	stop gained	G/A;T	snv	4.0E-06; 8.1E-06		4
rs727503607	TTN-AS1 ; TTN	0.882	0.160	2	178605642	stop gained	C/A	snv			4
rs727505319	TTN ; TTN-AS1	0.925	0.160	2	178542263	splice donor variant	C/G;T	snv	4.2E-06		4
rs112188483	TTN ; TTN-AS1	0.925	0.160	2	178528273	splice donor variant	C/G;T	snv	1.2E-05		3
rs1559415567	TTN ; TTN-AS1	0.925	0.160	2	178572564	frameshift variant	G/-	delins			3
rs373040154	TTN-AS1 ; TTN	0.925	0.160	2	178617388	stop gained	G/A;T	snv	3.2E-05		3
rs397517643	TTN ; TTN-AS1	0.925	0.160	2	178592914	frameshift variant	C/-	del			3
rs397517696	TTN ; TTN-AS1	0.925	0.160	2	178572287	frameshift variant	T/-	delins			3
rs397517776	TTN ; TTN-AS1	0.925	0.160	2	178539765	frameshift variant	CT/-	del		2.1E-05	3
rs557312035	TTN ; TTN-AS1	0.925	0.160	2	178564811	stop gained	G/A;C;T	snv	8.1E-06		3
rs727503565	TTN-AS1 ; TTN	0.925	0.160	2	178574498	frameshift variant	T/-	delins			3
rs727503586	TTN ; TTN-AS1	0.925	0.160	2	178589508	stop gained	A/T	snv			3
rs727504531	TTN-AS1 ; TTN	0.925	0.160	2	178573463	frameshift variant	A/-	del			3
rs727504535	TTN ; TTN-AS1	0.925	0.160	2	178538835	frameshift variant	T/-	delins	4.2E-06		3
rs727504550	TTN-AS1 ; TTN	0.925	0.160	2	178539537	stop gained	C/T	snv			3
rs727504851	TTN ; TTN-AS1	0.925	0.160	2	178613159	splice donor variant	A/-	del	1.6E-05	2.8E-05	3
rs727505284	TTN ; TTN-AS1	0.925	0.160	2	178565416	stop gained	G/A	snv	8.0E-06	1.4E-05	3
rs770038577	TTN ; TTN-AS1	0.925	0.160	2	178561042	stop gained	G/A;T	snv	4.0E-06		3
rs775186117	TTN ; TTN-AS1	0.925	0.160	2	178617393	stop gained	G/A	snv			3
rs794729265	TTN-AS1 ; TTN	0.925	0.160	2	178612355	stop gained	G/A	snv		7.0E-06	3