DisGeNET - a database of gene-disease associations

List of associated variants

Charcot-Marie-Tooth disease, Type 2I, C3888087

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
rs121913598	MPZ	0.851	0.080	1	161307361	missense variant	G/A	snv			5
rs281865127	MPZ	0.827	0.120	1	161306767	missense variant	T/C	snv			5
rs121913596	MPZ	0.851	0.080	1	161307389	missense variant	C/A;T	snv	4.0E-06		4
rs121913594	MPZ	0.882	0.080	1	161306914	missense variant	T/C	snv			3
rs121913605	MPZ	0.925	0.080	1	161307306	missense variant	G/C	snv	1.2E-05		2
rs267607244	MPZ	0.925	0.080	1	161306890	missense variant	A/G;T	snv	4.0E-06		2
rs121913604	MPZ	1.000	0.080	1	161307314	missense variant	C/G	snv			1
rs267607245	MPZ	1.000	0.080	1	161306882	missense variant	C/T	snv			1
rs267607246	MPZ	1.000	0.080	1	161306427	missense variant	G/C;T	snv			1