DisGeNET - a database of gene-disease associations

List of associated variants

Charcot-Marie-Tooth disease, demyelinating, Type 1F, C1843164

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
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
rs58332872	NEFL	0.882	0.080	8	24956248	missense variant	C/T	snv			5
rs60261494	NEFL	0.882	0.080	8	24956493	missense variant	GG/CT	mnv			3
rs61491953	NEFL	0.925	0.080	8	24956493	missense variant	G/A;C;T	snv			2
rs121913663	NEFL	1.000	0.080	8	24956098	stop gained	C/A;T	snv	4.2E-06; 4.2E-06		1
rs199422214	NEFL	1.000	0.080	8	24955888	stop gained	C/A;G	snv	1.7E-05		1