DisGeNET - a database of gene-disease associations

List of shared variants

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A, C4721887

Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A

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
rs119103261	MFN2	0.882	0.080	1	12002014	missense variant	G/C	snv			3
rs28940293	MFN2	0.882	0.080	1	11992606	missense variant	T/C;G	snv	8.0E-06		3
rs28940296	MFN2	0.925	0.080	1	11992584	missense variant	G/A;T	snv	3.6E-05		2