DisGeNET - a database of gene-disease associations

List of associated variants

Charcot-Marie-Tooth disease, Type 1C, C0270913

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
rs28928910	NEFL	0.827	0.200	8	24956452	missense variant	G/A;T	snv			11
rs104894519	LITAF	0.882	0.080	16	11553576	missense variant	C/T	snv			3
rs104894520	LITAF	0.925	0.080	16	11553566	missense variant	G/T	snv			2
rs104894521	LITAF	0.925	0.080	16	11553564	missense variant	A/C	snv			2
rs121908615	LITAF	0.925	0.120	16	11549693	missense variant	C/T	snv	4.0E-06		2
rs104894522	LITAF	1.000	0.080	16	11553546	missense variant	G/C	snv			1
rs141862602	LITAF	1.000	0.080	16	11556585	missense variant	G/A;C	snv	5.9E-04		1
rs797044847	LITAF	1.000	0.080	16	11549738	missense variant	C/T	snv			1
rs797044848	LITAF	1.000	0.080	16	11549719	missense variant	G/C	snv			1