DisGeNET - a database of gene-disease associations

List of associated variants

Charcot-Marie-Tooth disease, Type 2J, C1843153

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
rs121913603	MPZ	0.732	0.160	1	161306722	missense variant	T/C;G	snv	2.0E-05		12
rs121913595	MPZ	0.742	0.160	1	161306785	missense variant	G/A;T	snv			11
rs121913586	MPZ	0.752	0.200	1	161306414	missense variant	C/G;T	snv			10
rs1553259648	MPZ	0.776	0.160	1	161306759	missense variant	G/C;T	snv			8
rs121913597	MPZ	0.827	0.160	1	161307268	missense variant	T/A	snv			5
rs121913606	MPZ	1.000	0.160	1	161306866	missense variant	T/A	snv			1
rs121913609	MPZ	1.000	0.160	1	161306843	missense variant	G/C;T	snv			1