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
rs869248137	BAG3	0.882	0.120	10	119676479	stop gained	C/A;T	snv	4.0E-06		4
rs727505109	BAG3	1.000		10	119676617	frameshift variant	C/-	delins			2
rs730880055	BAG3			10	119676851	stop gained	C/T	snv			1
rs397516881	BAG3	0.827	0.120	10	119676917	missense variant	G/A	snv			7
rs727504597	LAMP2	1.000	0.160	X	120441803	frameshift variant	A/-	del			2
rs727504557	LAMP2			X	120441824	frameshift variant	T/-	delins			1
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs587777587	RAF1	1.000		3	12584539	missense variant	G/A;C	snv	1.2E-05; 4.0E-06	1.4E-05	2
rs886040968	SLC12A2	1.000	0.040	5	128178664	frameshift variant	GTCTGGTGGCT/-	delins			3
rs746503158	MTG1	1.000	0.040	10	133420125	missense variant	A/G;T	snv	8.0E-06; 4.0E-06		3
rs63750743	TMEM43	0.925	0.080	3	14141665	missense variant	C/T	snv			4
rs867770797	EDNRA	0.851	0.200	4	147519875	missense variant	G/A	snv			8
rs199473000	KCNH2	1.000	0.120	7	150949031	missense variant	C/G;T	snv			2
rs104894942	TAZ ; DNASE1L1	1.000	0.120	X	154413248	missense variant	C/A;T	snv			2
rs727504327	DNASE1L1 ; TAZ	1.000	0.120	X	154413544	missense variant	G/A	snv			2
rs727504431	TAZ	1.000	0.120	X	154420212	missense variant	G/T	snv			2
rs727504394	TAZ	1.000	0.120	X	154420666	frameshift variant	TG/-	delins			2
rs387907218	TAZ	1.000	0.120	X	154420676	missense variant	G/A;C	snv			2
rs397515750	TAZ			X	154420948	stop gained	C/T	snv			1
rs1557194525	TAZ	1.000	0.120	X	154420961	frameshift variant	C/-	del			3
rs61046466	LMNA	1.000	0.120	1	156114934	stop gained	C/T	snv			2
rs58327533	LMNA	1.000	0.120	1	156114991	missense variant	C/G;T	snv			4
rs397517895	LMNA			1	156115072	missense variant	C/G	snv			1
rs59270054	LMNA	0.925	0.120	1	156115162	missense variant	G/A;C	snv			6
rs794728602	LMNA	1.000	0.040	1	156115168	missense variant	G/A	snv			3