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
rs104893823	TNNC1	0.882	0.040	3	52451285	missense variant	C/T	snv			5
rs104894501	TPM1	0.851	0.040	15	63044030	stop gained	G/A;C;T	snv	4.0E-06		5
rs104894505	TPM1	0.882	0.040	15	63044072	missense variant	G/A	snv			4
rs10927875	ZBTB17	1.000	0.040	1	15972817	intron variant	C/T	snv		0.29	3
rs111033559	PLN ; CEP85L	0.925	0.040	6	118558946	missense variant	C/T	snv			4
rs1212453165	TPM1	0.925	0.040	15	63043751	missense variant	G/A	snv	6.8E-06		3
rs121913002	DES	0.851	0.160	2	219425727	missense variant	C/A;G;T	snv	6.5E-05; 5.6E-04		7
rs121917776	VCL	0.882	0.040	10	74112086	missense variant	C/T	snv	9.9E-05	7.0E-06	5
rs1266360671	RYR2	0.925	0.080	1	237270518	missense variant	T/C	snv	4.7E-06		3
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
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
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		15
rs138592977	LMNA	1.000	0.040	1	156135968	missense variant	G/A	snv	5.6E-05	6.3E-05	3
rs1393297693	SRF	1.000	0.040	6	43178806	missense variant	G/A	snv	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
rs1553265736	LMNA	0.925	0.040	1	156136080	missense variant	G/C	snv			4
rs1553974835	HAND2-AS1 ; HAND2	1.000	0.040	4	173529091	stop gained	C/A	snv			2
rs1739843	HSPB7	0.882	0.040	1	16016759	intron variant	T/C	snv		0.62	4
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs199476301	TPM1	0.851	0.040	15	63042874	missense variant	G/A;T	snv	4.0E-06		6
rs199476314	TPM1	0.882	0.040	15	63060930	missense variant	T/G	snv			4