DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

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
rs797044758	LMNA	1.000	0.080	1	156135262	frameshift variant	-/A	ins			1
rs58013325	LMNA	1.000	0.080	1	156137144	frameshift variant	-/C	delins			3
rs1553261982	LMNA	1.000	0.080	1	156115165	frameshift variant	-/CCGA	delins			1
rs267607646	LMNA	1.000	0.080	1	156115265	frameshift variant	-/G	delins			2
rs1553265328	LMNA	1.000	0.080	1	156134893	frameshift variant	-/T	delins			1
rs1553261855	LMNA	1.000	0.080	1	156114968	frameshift variant	-/TC	delins			1
rs397517888	LMNA	1.000	0.080	1	156136074	frameshift variant	-/TGGA	delins			2
rs1553265760	LMNA	1.000	0.080	1	156136106	frameshift variant	A/-	del			1
rs1064793170	MFN2	1.000	0.080	1	12002025	missense variant	A/C;G	snv			1
rs57983345	LMNA	0.851	0.160	1	156115034	missense variant	A/G	snv			6
rs1060502838	GARS1	0.925	0.080	7	30621448	missense variant	A/G	snv			2
rs1553261891	LMNA	0.925	0.120	1	156115012	missense variant	A/G	snv			2
rs58436778	LMNA	0.925	0.120	1	156115052	missense variant	A/G	snv			2
rs1553142428	MFN2	1.000	0.080	1	11996157	missense variant	A/G	snv			1
rs1557522794	MFN2	1.000	0.080	1	11997295	splice acceptor variant	A/G	snv			1
rs863224970	MFN2	1.000	0.080	1	11997316	missense variant	A/G	snv			1
rs267607599	LMNA	0.925	0.120	1	156136422	missense variant	A/G;T	snv			2
rs60290646	LMNA	1.000	0.080	1	156115076	missense variant	A/G;T	snv			1
rs863224967	MFN2	1.000	0.080	1	12002069	missense variant	A/G;T	snv	4.0E-06		1
rs1554338260	GARS1	0.925	0.080	7	30612214	missense variant	A/T	snv			2
rs60872029	LMNA	0.925	0.120	1	156115010	inframe deletion	AAG/-	delins			2
rs1553265660	LMNA	1.000	0.080	1	156135966	frameshift variant	C/-	delins			1
rs1558115970	LMNA	1.000	0.080	1	156114989	frameshift variant	C/-	delins			1
rs1558133157	LMNA	1.000	0.080	1	156137138	frameshift variant	C/-	delins			1
rs137852975	HNRNPUL2-BSCL2 ; BSCL2	0.851	0.240	11	62692671	stop gained	C/A	snv	2.0E-05	1.4E-05	5