DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Motor and Sensory Neuropathy Type I, C0751036

Source: CLINVAR ×

Results per page

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
rs121913595	MPZ	0.742	0.160	1	161306785	missense variant	G/A;T	snv			10
rs28928910	NEFL	0.827	0.200	8	24956452	missense variant	G/A;T	snv			10
rs121913586	MPZ	0.752	0.200	1	161306414	missense variant	C/G;T	snv			9
rs121913603	MPZ	0.732	0.160	1	161306722	missense variant	T/C;G	snv	2.0E-05		8
rs1553259648	MPZ	0.776	0.160	1	161306759	missense variant	G/C;T	snv			8
rs121913589	MPZ	0.827	0.200	1	161306863	missense variant	C/A;G;T	snv			7
rs104894161	EGR2	0.807	0.080	10	62813563	missense variant	G/A	snv			4
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			4
rs80338763	PMP22	0.851	0.200	17	15239509	frameshift variant	C/-;CC	delins			4
rs121913585	MPZ	0.851	0.080	1	161307304	missense variant	G/A;C	snv			3
rs121913598	MPZ	0.851	0.080	1	161307361	missense variant	G/A	snv			3
rs121913601	MPZ	0.851	0.080	1	161307259	missense variant	G/A;C	snv			3
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			3
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	3
rs104894623	PMP22	0.851	0.200	17	15239591	missense variant	C/G;T	snv			3
rs104894625	PMP22	0.851	0.120	17	15260663	missense variant	G/A;T	snv			3
rs104894159	EGR2	0.827	0.080	10	62813413	missense variant	G/A	snv			2
rs104894519	LITAF	0.882	0.080	16	11553576	missense variant	C/T	snv			2
rs104894520	LITAF	0.925	0.080	16	11553566	missense variant	G/T	snv			2
rs104894521	LITAF	0.925	0.080	16	11553564	missense variant	A/C	snv			2
rs121913583	MPZ	0.925	0.080	1	161306870	missense variant	T/C	snv			2
rs121913584	MPZ	0.925	0.080	1	161306886	missense variant	G/A;C;T	snv	3.2E-05		2
rs121913588	MPZ	0.925	0.080	1	161306747	missense variant	C/T	snv			2
rs121913590	MPZ	0.851	0.080	1	161306864	missense variant	G/A	snv		7.0E-06	2
rs121913594	MPZ	0.882	0.080	1	161306914	missense variant	T/C	snv			2