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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs111569862	LMNA	1	156137653	splice acceptor variant	G/A;C	snv			1
rs1332805343	RYR2	1	237496705	missense variant	G/C	snv	4.0E-06		1
rs267607593	LMNA	1	156134964	missense variant	T/C	snv			1
rs397516454	TNNT2	1	201365610	missense variant	A/C	snv			1
rs397516461	TNNT2	1	201365220	missense variant	C/T	snv			1
rs397516464	TNNT2	1	201364365	missense variant	C/G;T	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
rs45525839	TNNT2	1	201364357	missense variant	G/A;C;T	snv	4.0E-06; 2.0E-05		1
rs483352832	TNNT2	1	201364327	missense variant	G/A	snv	3.2E-05		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
rs730881097	TNNT2	1	201363352	missense variant	C/A	snv	8.0E-06	2.1E-05	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