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
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs386134243	LMNA	0.708	0.360	1	156135967	missense variant	C/A;T	snv	4.0E-06		16
rs1805124	SCN5A	0.742	0.280	3	38603929	missense variant	T/C	snv	0.22	0.25	16
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		15
rs45546039	SCN5A	0.732	0.120	3	38613781	missense variant	C/A;T	snv	4.1E-06		15
rs60682848	LMNA	0.790	0.200	1	156134838	stop gained	C/T	snv		7.0E-06	11
rs41261344	SCN5A	0.763	0.120	3	38575385	missense variant	C/T	snv	5.4E-03	2.2E-03	11
rs766265889	TTN-AS1 ; TTN	0.827	0.240	2	178535508	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs58034145	LMNA	0.827	0.160	1	156134830	missense variant	A/C	snv			10
rs140614802	LOC107984670 ; ADSS1	0.851	0.040	14	104741231	missense variant	G/A	snv	3.4E-05	2.8E-05	10
rs114638163	MIPEP	0.827	0.240	13	23805994	stop gained	C/A;T	snv	4.0E-06; 1.3E-03		10
rs397516955	DSP	0.790	0.120	6	7562753	stop gained	G/A	snv			9
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		9
rs867770797	EDNRA	0.851	0.200	4	147519875	missense variant	G/A	snv			8
rs121913627	MYH7	0.851	0.080	14	23427657	missense variant	C/A;G;T	snv	4.0E-06		8
rs397516881	BAG3	0.827	0.120	10	119676917	missense variant	G/A	snv			7
rs121913002	DES	0.851	0.160	2	219425727	missense variant	C/A;G;T	snv	6.5E-05; 5.6E-04		7
rs58596362	LMNA	0.827	0.280	1	156138613	splice region variant	C/A;T	snv	8.1E-06		7
rs59026483	LMNA	0.827	0.160	1	156134457	missense variant	C/T	snv		7.0E-06	7
rs121913630	MYH7	0.851	0.080	14	23425814	missense variant	G/A;C	snv	1.2E-05		7