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
rs746503158	MTG1	1.000	0.040	10	133420125	missense variant	A/G;T	snv	8.0E-06; 4.0E-06		3
rs758264780	TPM1	0.882	0.040	15	63044029	frameshift variant	G/-	delins			4
rs1266360671	RYR2	0.925	0.080	1	237270518	missense variant	T/C	snv	4.7E-06		3
rs150821281	PKP2	0.827	0.080	12	32878461	missense variant	G/A	snv	2.3E-03	2.5E-03	7
rs199476317	TPM1	0.827	0.080	15	63062263	missense variant	G/A	snv			6
rs267607581	LMNA	0.925	0.080	1	156137651	splice region variant	C/G	snv			4
rs59301204	LMNA	0.925	0.080	1	156135956	missense variant	G/A;C	snv	1.2E-05		4
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
rs761056344	PLN ; CEP85L	0.925	0.080	6	118558994	missense variant	C/G;T	snv	4.0E-06; 3.2E-05		3
rs137854618	SCN5A	0.742	0.120	3	38566426	missense variant	C/A;T	snv	8.0E-06		15
rs267607578	LMNA	0.925	0.120	1	156136952	missense variant	G/A;C	snv		1.4E-05	3
rs397516881	BAG3	0.827	0.120	10	119676917	missense variant	G/A	snv			7
rs397517889	LMNA	0.925	0.120	1	156136093	missense variant	C/T	snv		7.0E-06	3
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
rs56816490	LMNA	0.925	0.120	1	156135913	stop gained	G/A;T	snv			4
rs121913002	DES	0.851	0.160	2	219425727	missense variant	C/A;G;T	snv	6.5E-05; 5.6E-04		7
rs28933090	LMNA	0.925	0.160	1	156115172	missense variant	T/A;G	snv			3
rs28933091	LMNA	0.882	0.160	1	156134474	missense variant	C/A;G	snv			4
rs28933093	LMNA	0.882	0.160	1	156130741	missense variant	G/A	snv			5
rs58034145	LMNA	0.827	0.160	1	156134830	missense variant	A/C	snv			10
rs59026483	LMNA	0.827	0.160	1	156134457	missense variant	C/T	snv		7.0E-06	7
rs61195471	LMNA	0.827	0.160	1	156134496	missense variant	G/A	snv			6