DisGeNET - a database of gene-disease associations

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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
rs267607577	LMNA			1	156136352	frameshift variant	GCACGCAC/-;GCACGCACGCAC	delins			2
rs111569862	LMNA			1	156137653	splice acceptor variant	G/A;C	snv			1
rs267607593	LMNA			1	156134964	missense variant	T/C	snv			1
rs397517886	LMNA			1	156136070	missense variant	T/C	snv			1
rs397517887	LMNA			1	156136074	inframe deletion	ATGGAGATCCACGCC/-	delins			1
rs397517895	LMNA			1	156115072	missense variant	C/G	snv			1
rs397517904	LMNA			1	156130774	splice donor variant	G/A;C;T	snv			1
rs397517908	LMNA			1	156134927	frameshift variant	C/-	delins			1
rs397517909	LMNA			1	156134949	stop gained	G/T	snv			1
rs397517911	LMNA			1	156135239	missense variant	C/G	snv			1
rs397517915	LMNA			1	156135922	frameshift variant	C/-	del			1
rs58389804	LMNA			1	156136049	frameshift variant	T/-	delins			1
rs58978449	LMNA			1	156134943	inframe deletion	AAG/-	delins			1
rs59564495	LMNA			1	156135231	frameshift variant	G/-	delins			1
rs730880132	LMNA			1	156134875	missense variant	T/C	snv			1
rs753988867	LMNA			1	156137180	missense variant	C/T	snv	2.1E-05	3.5E-05	1
rs794728593	LMNA			1	156134933	synonymous variant	G/A	snv		7.0E-06	1
rs794728597	LMNA			1	156130624	inframe deletion	AAG/-	delins			1
rs876657650	LMNA			1	156130736	frameshift variant	A/-	del			1
rs386134243	LMNA	0.708	0.360	1	156135967	missense variant	C/A;T	snv	4.0E-06		16
rs60682848	LMNA	0.790	0.200	1	156134838	stop gained	C/T	snv		7.0E-06	4
rs58596362	LMNA	0.827	0.280	1	156138613	splice region variant	C/A;T	snv	8.1E-06		4
rs56984562	LMNA	0.827	0.200	1	156137666	missense variant	C/A;G;T	snv			3
rs61195471	LMNA	0.827	0.160	1	156134496	missense variant	G/A	snv			3
rs59026483	LMNA	0.827	0.160	1	156134457	missense variant	C/T	snv		7.0E-06	2