DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Dilated, C0007193

Disease: Cardiomyopathy, Familial Idiopathic

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
rs58034145	LMNA	0.827	0.160	1	156134830	missense variant	A/C	snv			10
rs59026483	LMNA	0.827	0.160	1	156134457	missense variant	C/T	snv		7.0E-06	7
rs59301204	LMNA	0.925	0.080	1	156135956	missense variant	G/A;C	snv	1.2E-05		4
rs60682848	LMNA	0.790	0.200	1	156134838	stop gained	C/T	snv		7.0E-06	11
rs61195471	LMNA	0.827	0.160	1	156134496	missense variant	G/A	snv			6
rs61444459	LMNA	0.851	0.160	1	156137667	missense variant	G/A;C	snv			5
rs746503158	MTG1	1.000	0.040	10	133420125	missense variant	A/G;T	snv	8.0E-06; 4.0E-06		3
rs146275785	NEBL	0.925	0.040	10	20828531	missense variant	G/A;T	snv	7.2E-05; 2.7E-04		3
rs150821281	PKP2	0.827	0.080	12	32878461	missense variant	G/A	snv	2.3E-03	2.5E-03	7
rs111033559	PLN ; CEP85L	0.925	0.040	6	118558946	missense variant	C/T	snv			4
rs761056344	PLN ; CEP85L	0.925	0.080	6	118558994	missense variant	C/G;T	snv	4.0E-06; 3.2E-05		3
rs397516607	RBM20	0.925	0.040	10	110821356	missense variant	G/A	snv			4
rs1266360671	RYR2	0.925	0.080	1	237270518	missense variant	T/C	snv	4.7E-06		3
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		15
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs41310765	SCN5A	0.882	0.120	3	38575424	missense variant	G/A	snv	1.4E-04	7.7E-05	5
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		15
rs1393297693	SRF	1.000	0.040	6	43178806	missense variant	G/A	snv	4.0E-06		3
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs104893823	TNNC1	0.882	0.040	3	52451285	missense variant	C/T	snv			5
rs730881071	TNNI3	1.000	0.040	19	55154158	missense variant	G/A	snv	8.0E-06		2
rs727503512	TNNT2	0.851	0.080	1	201363349	missense variant	G/A;C;T	snv	4.0E-06		5
rs74315379	TNNT2	0.827	0.080	1	201364336	missense variant	G/A;T	snv	1.2E-04		6
rs74315380	TNNT2	0.851	0.080	1	201364366	missense variant	G/A;C	snv			5
rs104894501	TPM1	0.851	0.040	15	63044030	stop gained	G/A;C;T	snv	4.0E-06		5