DisGeNET - a database of gene-disease associations

List of shared variants

Charcot-Marie-Tooth Disease, C0007959

Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)

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
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	9
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			9
rs104894617	PMP22	0.851	0.080	17	15260681	missense variant	A/G	snv			4