DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOMYOPATHY, DILATED, 1L, C1847667

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
rs121909298	SGCD	0.925	0.040	5	156595000	missense variant	T/G	snv	2.0E-04	1.3E-04	4
rs727503422	SGCD	0.925	0.200	5	156508703	splice donor variant	G/A	snv			3
rs1175344271	SGCD	0.925	0.200	5	156757668	stop gained	C/A	snv			2
rs121909295	SGCD	0.925	0.200	5	156595042	stop gained	C/G;T	snv	4.1E-06; 8.1E-06		2
rs1267810339	SGCD	0.925	0.200	5	156344678	splice donor variant	G/A	snv	4.3E-06		2
rs1554137109	SGCD	0.925	0.200	5	156757620	frameshift variant	A/-	delins			2
rs1554137130	SGCD	0.925	0.200	5	156757705	splice donor variant	G/T	snv			2
rs397517923	SGCD	0.925	0.200	5	156344554	stop gained	C/A;T	snv	1.2E-04	6.3E-05	2