DisGeNET - a database of gene-disease associations

List of shared variants

Charcot-Marie-Tooth Disease, Type Ia (disorder), C0270911

Disease: Hereditary Motor and Sensory Neuropathy Type I

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
rs104894625	PMP22	0.851	0.120	17	15260663	missense variant	G/A;T	snv			4
rs80338763	PMP22	0.851	0.200	17	15239509	frameshift variant	C/-;CC	delins			4
rs104894519	LITAF	0.882	0.080	16	11553576	missense variant	C/T	snv			3
rs863225029	PMP22	0.925	0.080	17	15230966	frameshift variant	A/-	del	4.0E-06		2