DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Dilated, C0007193

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
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs1739843	HSPB7	0.882	0.040	1	16016759	intron variant	T/C	snv		0.62	4
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs7597774	ADD2			2	70716718	intron variant	A/C	snv		0.49	1
rs10927875	ZBTB17	1.000	0.040	1	15972817	intron variant	C/T	snv		0.29	3
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs9262636	HCG22	1.000	0.080	6	31058071	intron variant	A/G	snv		0.22	2
rs9262635	HCG22	1.000	0.080	6	31057702	intron variant	A/G	snv		0.22	2
rs9262615	HCG22	1.000	0.080	6	31053384	upstream gene variant	C/G	snv		0.21	2
rs4713429	HCG22	1.000	0.080	6	31053240	upstream gene variant	C/G	snv		0.20	2
rs2234962	BAG3	1.000	0.040	10	119670121	missense variant	T/C	snv	0.17	0.15	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
rs41261344	SCN5A	0.763	0.120	3	38575385	missense variant	C/T	snv	5.4E-03	2.2E-03	11
rs137973321	LOC102725112 ; NEBL	1.000	0.040	10	20868744	missense variant	C/T	snv	2.1E-03	2.1E-03	2
rs201754030	TSFM	0.925	0.200	12	57796461	stop gained	C/T	snv	1.5E-03	1.3E-03	5
rs749838192	SCO2 ; NCAPH2			22	50524395	frameshift variant	-/TGAGTCACTGCTGCATGCT	ins	5.8E-04; 4.2E-06	8.9E-04	1
rs6716782	TTN-AS1 ; TTN			2	178706956	splice acceptor variant	T/G	snv	1.3E-04	5.9E-04	1
rs202234172	TTN ; TTN-AS1			2	178689897	splice acceptor variant	C/T	snv	3.4E-04	4.7E-04	1
rs143139258	MYL2	0.882	0.080	12	110913097	missense variant	T/G	snv	2.0E-04	2.9E-04	4
rs781036800	VCL			10	74111991	frameshift variant	CT/-	del		1.3E-04	1
rs535039125	CYP2B6	0.851	0.040	19	41004380	missense variant	C/T	snv	1.1E-04	1.3E-04	5
rs587782987	TTN-AS1 ; TTN			2	178611274	splice region variant	G/A	snv	1.1E-04; 4.1E-06	1.0E-04	1
rs137853197	NEXN	0.925	0.040	1	77942756	missense variant	A/G	snv	7.2E-05	1.0E-04	3
rs41310765	SCN5A	0.882	0.120	3	38575424	missense variant	G/A	snv	1.4E-04	7.7E-05	5