DisGeNET - a database of gene-disease associations

List of associated variants

Mixed sensory-motor polyneuropathy, C0271682

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
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs267607165	TUBB3	0.708	0.520	16	89935679	missense variant	G/A;C	snv			18
rs121918312	BAG3	0.776	0.160	10	119672373	missense variant	C/A;T	snv			11
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	9
rs104894625	PMP22	0.851	0.120	17	15260663	missense variant	G/A;T	snv			4
rs753950237	DPYD	0.882	0.160	1	97082400	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs267607164	TUBB3	0.925	0.160	16	89935700	missense variant	G/A;C	snv			2
rs932826788	MPZ	1.000	0.040	1	161309847	missense variant	G/A	snv	5.0E-06		1