DisGeNET - a database of gene-disease associations

List of shared variants

Charcot-Marie-Tooth Disease, C0007959

Disease: Hereditary Motor and Sensory-Neuropathy Type II

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
rs137852973	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.200	11	62702493	missense variant	G/A;C	snv		7.0E-06	13
rs28940291	MFN2	0.776	0.080	1	11992660	missense variant	G/A	snv	4.0E-06		9
rs119103267	MFN2	0.790	0.160	1	12009641	missense variant	C/T	snv	2.5E-04	2.8E-04	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
rs59885338	LMNA	0.851	0.120	1	156135268	missense variant	C/T	snv	3.6E-05	2.8E-05	4
rs267606621	AARS1	0.882	0.080	16	70268356	missense variant	C/T	snv			3
rs28940294	MFN2	0.882	0.080	1	12001423	missense variant	G/A	snv	4.0E-06		3
rs587777789	TFG	0.882	0.080	3	100744917	missense variant	G/A;T	snv	4.0E-06		3