DisGeNET - a database of gene-disease associations

List of shared variants

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V, C1833308

Disease: Charcot-Marie-Tooth disease, Type 2D

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
rs1554337974	GARS1	0.882	0.080	7	30609643	missense variant	C/T	snv			3
rs137852645	GARS1	0.925	0.080	7	30599996	missense variant	A/G	snv			2
rs137852647	GARS1	0.925	0.080	7	30626280	missense variant	G/A	snv	2.0E-05	7.0E-06	2
rs370531212	GARS1	0.925	0.080	7	30599954	missense variant	C/T	snv		1.4E-05	2
rs863224873	GARS1	0.925	0.080	7	30612212	missense variant	A/C;G;T	snv			2