DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathies ×

Variants associated to the Gene: LMNA ×

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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
rs56793579	LMNA	0.851	0.240	1	156115102	missense variant	C/G;T	snv			3
rs56816490	LMNA	0.925	0.120	1	156135913	stop gained	G/A;T	snv			3
rs267607554	LMNA	1.000	0.080	1	156135925	stop gained	C/T	snv			2
rs267607571	LMNA	0.882	0.160	1	156134458	missense variant	G/A;T	snv			2
rs267607577	LMNA			1	156136352	frameshift variant	GCACGCAC/-;GCACGCACGCAC	delins			2
rs59270054	LMNA	0.925	0.120	1	156115162	missense variant	G/A;C	snv			2
rs59301204	LMNA	0.925	0.080	1	156135956	missense variant	G/A;C	snv	1.2E-05		2
rs869125101	LMNA	1.000	0.080	1	156134529	splice donor variant	G/A;C	snv			2