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
rs56984562	LMNA	0.827	0.200	1	156137666	missense variant	C/A;G;T	snv			6
rs61444459	LMNA	0.851	0.160	1	156137667	missense variant	G/A;C	snv			5
rs10927875	ZBTB17	1.000	0.040	1	15972817	intron variant	C/T	snv		0.29	3
rs1739843	HSPB7	0.882	0.040	1	16016759	intron variant	T/C	snv		0.62	4
rs1553974835	HAND2-AS1 ; HAND2	1.000	0.040	4	173529091	stop gained	C/A	snv			2
rs267607155	TTN	0.925	0.040	2	178782980	missense variant	A/G;T	snv			3
rs1298494952	TTN	1.000	0.040	2	178789994	missense variant	T/C	snv	4.0E-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
rs146275785	NEBL	0.925	0.040	10	20828531	missense variant	G/A;T	snv	7.2E-05; 2.7E-04		3
rs397516695	DES	0.882	0.040	2	219418869	missense variant	T/A;C	snv	5.5E-05		4
rs1368507241	DES	1.000	0.040	2	219420613	missense variant	C/T	snv		7.0E-06	2
rs121913002	DES	0.851	0.160	2	219425727	missense variant	C/A;G;T	snv	6.5E-05; 5.6E-04		7
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1266360671	RYR2	0.925	0.080	1	237270518	missense variant	T/C	snv	4.7E-06		3
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs150821281	PKP2	0.827	0.080	12	32878461	missense variant	G/A	snv	2.3E-03	2.5E-03	7
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		15
rs41310765	SCN5A	0.882	0.120	3	38575424	missense variant	G/A	snv	1.4E-04	7.7E-05	5
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		15
rs535039125	CYP2B6	0.851	0.040	19	41004380	missense variant	C/T	snv	1.1E-04	1.3E-04	5
rs1393297693	SRF	1.000	0.040	6	43178806	missense variant	G/A	snv	4.0E-06		3
rs104893823	TNNC1	0.882	0.040	3	52451285	missense variant	C/T	snv			5