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
rs74315380	TNNT2	0.851	0.080	1	201364366	missense variant	G/A;C	snv			5
rs121913002	DES	0.851	0.160	2	219425727	missense variant	C/A;G;T	snv	6.5E-05; 5.6E-04		7
rs1298494952	TTN	1.000	0.040	2	178789994	missense variant	T/C	snv	4.0E-06		2
rs1368507241	DES	1.000	0.040	2	219420613	missense variant	C/T	snv		7.0E-06	2
rs267607155	TTN	0.925	0.040	2	178782980	missense variant	A/G;T	snv			3
rs397516695	DES	0.882	0.040	2	219418869	missense variant	T/A;C	snv	5.5E-05		4
rs104893823	TNNC1	0.882	0.040	3	52451285	missense variant	C/T	snv			5
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
rs1553974835	HAND2-AS1 ; HAND2	1.000	0.040	4	173529091	stop gained	C/A	snv			2
rs867770797	EDNRA	0.851	0.200	4	147519875	missense variant	G/A	snv			8
rs111033559	PLN ; CEP85L	0.925	0.040	6	118558946	missense variant	C/T	snv			4
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
rs761056344	PLN ; CEP85L	0.925	0.080	6	118558994	missense variant	C/G;T	snv	4.0E-06; 3.2E-05		3
rs121917776	VCL	0.882	0.040	10	74112086	missense variant	C/T	snv	9.9E-05	7.0E-06	5
rs146275785	NEBL	0.925	0.040	10	20828531	missense variant	G/A;T	snv	7.2E-05; 2.7E-04		3
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs2234962	BAG3	1.000	0.040	10	119670121	missense variant	T/C	snv	0.17	0.15	3
rs397516607	RBM20	0.925	0.040	10	110821356	missense variant	G/A	snv			4
rs397516881	BAG3	0.827	0.120	10	119676917	missense variant	G/A	snv			7
rs746503158	MTG1	1.000	0.040	10	133420125	missense variant	A/G;T	snv	8.0E-06; 4.0E-06		3
rs150821281	PKP2	0.827	0.080	12	32878461	missense variant	G/A	snv	2.3E-03	2.5E-03	7