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
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs119103263	MFN2	0.827	0.240	1	11992659	missense variant	C/T	snv			19
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	11
rs61672878	LMNA	0.776	0.200	1	156136094	missense variant	G/A;T	snv			11
rs28940291	MFN2	0.776	0.080	1	11992660	missense variant	G/A	snv	4.0E-06		9
rs57520892	LMNA	0.776	0.200	1	156137204	missense variant	G/A;C	snv	4.1E-05		8
rs58932704	LMNA	0.776	0.200	1	156136413	missense variant	C/T	snv			8
rs119103267	MFN2	0.790	0.160	1	12009641	missense variant	C/T	snv	2.5E-04	2.8E-04	7
rs150840924	LMNA	0.807	0.240	1	156136359	missense variant	C/T	snv	8.0E-06	7.0E-06	7
rs58596362	LMNA	0.827	0.280	1	156138613	splice region variant	C/A;T	snv	8.1E-06		7
rs59026483	LMNA	0.827	0.160	1	156134457	missense variant	C/T	snv		7.0E-06	7
rs60864230	LMNA	0.790	0.280	1	156130658	missense variant	G/A;C;T	snv	4.0E-06		7
rs119103268	MFN2	0.827	0.080	1	11992689	missense variant	C/T	snv			6
rs267607555	LMNA	0.807	0.280	1	156136009	missense variant	C/T	snv		7.0E-06	6
rs56984562	LMNA	0.827	0.200	1	156137666	missense variant	C/A;G;T	snv			6
rs57983345	LMNA	0.851	0.160	1	156115034	missense variant	A/G	snv			6
rs59270054	LMNA	0.925	0.120	1	156115162	missense variant	G/A;C	snv			6
rs61195471	LMNA	0.827	0.160	1	156134496	missense variant	G/A	snv			6
rs119103265	MFN2	0.827	0.120	1	12002033	missense variant	C/T	snv			5
rs121913598	MPZ	0.851	0.080	1	161307361	missense variant	G/A	snv			5
rs28933093	LMNA	0.882	0.160	1	156130741	missense variant	G/A	snv			5
rs56793579	LMNA	0.851	0.240	1	156115102	missense variant	C/G;T	snv			5
rs57629361	LMNA	0.827	0.280	1	156137207	missense variant	C/A;G;T	snv	9.3E-06		5
rs59332535	LMNA	0.827	0.160	1	156134911	missense variant	G/A	snv			5