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
rs119103267	MFN2	0.790	0.160	1	12009641	missense variant	C/T	snv	2.5E-04	2.8E-04	7
rs267607570	LMNA	0.925	0.120	1	156130757	missense variant	G/A;C	snv	4.8E-05		2
rs57520892	LMNA	0.776	0.200	1	156137204	missense variant	G/A;C	snv	4.1E-05		8
rs59885338	LMNA	0.851	0.120	1	156135268	missense variant	C/T	snv	3.6E-05	2.8E-05	4
rs137852975	HNRNPUL2-BSCL2 ; BSCL2	0.851	0.240	11	62692671	stop gained	C/A	snv	2.0E-05	1.4E-05	5
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs267607561	LMNA	1.000	0.080	1	156136240	stop gained	C/A;T	snv	1.2E-05	1.4E-05	1
rs57629361	LMNA	0.827	0.280	1	156137207	missense variant	C/A;G;T	snv	9.3E-06		5
rs58596362	LMNA	0.827	0.280	1	156138613	splice region variant	C/A;T	snv	8.1E-06		7
rs150840924	LMNA	0.807	0.240	1	156136359	missense variant	C/T	snv	8.0E-06	7.0E-06	7
rs773159585	MFN2	0.882	0.080	1	11998877	missense variant	C/T	snv	8.0E-06		4
rs28940293	MFN2	0.882	0.080	1	11992606	missense variant	T/C;G	snv	8.0E-06		3
rs267607620	LMNA	0.925	0.120	1	156114929	missense variant	C/G;T	snv	6.0E-06		2
rs1060501917	MFN2	1.000	0.080	1	12011512	missense variant	T/G	snv	4.0E-06	7.0E-06	1
rs137852643	GARS1	0.925	0.080	7	30609729	missense variant	G/C	snv	4.0E-06		3
rs28940294	MFN2	0.882	0.080	1	12001423	missense variant	G/A	snv	4.0E-06		3
rs386134243	LMNA	0.708	0.360	1	156135967	missense variant	C/A;T	snv	4.0E-06		16
rs587777789	TFG	0.882	0.080	3	100744917	missense variant	G/A;T	snv	4.0E-06		3
rs794728591	LMNA	1.000	0.080	1	156134811	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs1340894696	LMNA	1.000	0.080	1	156136083	missense variant	C/G;T	snv	4.0E-06		1
rs748287282	BSCL2 ; HNRNPUL2-BSCL2	1.000	0.080	11	62702475	missense variant	C/T	snv	4.0E-06	1.4E-05	1
rs267607623	LMNA	1.000	0.080	1	156136021	stop gained	C/A;T	snv	4.0E-06		1
rs267607617	LMNA	1.000	0.080	1	156136027	stop gained	C/G;T	snv	4.0E-06		1
rs60864230	LMNA	0.790	0.280	1	156130658	missense variant	G/A;C;T	snv	4.0E-06		7
rs587777606	HNRNPUL2-BSCL2 ; BSCL2 ; LRRN4CL	0.851	0.160	11	62691300	stop gained	G/A	snv	4.0E-06	7.0E-06	6