DisGeNET - a database of gene-disease associations

List of associated variants

Charcot-Marie-Tooth Disease, C0007959

Source: CURATED ×

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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
rs1060503021	HSPB1	0.925	0.080	7	76304077	stop gained	GC/CT	mnv			1
rs1554122541	SH3TC2	1.000	0.080	5	149038339	frameshift variant	G/-	del			1
rs886041386	GDAP1	1.000	0.080	8	74361900	frameshift variant	A/-	del	4.0E-06	2.8E-05	1
rs724159994	IGHMBP2	0.882	0.120	11	68939658	frameshift variant	AG/-	delins			3
rs1553259643	MPZ	0.925	0.080	1	161306719	frameshift variant	TACA/-	delins			2
rs756461496	GDAP1	0.925	0.080	8	74364305	frameshift variant	-/T	delins	4.0E-06	2.1E-05	2
rs786200930	LRSAM1	0.925	0.080	9	127502846	frameshift variant	-/GC	delins			2
rs863225026	MPZ	0.925	0.080	1	161305973	splice acceptor variant	TCTGGGGGAGGGGCG/-	delins			2
rs864622180	PMP22	0.925	0.080	17	15259134	frameshift variant	G/-	delins			2
rs864622664	SH3TC2	0.925	0.080	5	149010294	frameshift variant	C/-	delins		7.0E-06	2
rs760730366	MPZ	1.000	0.080	1	161307356	frameshift variant	GGGAGCCC/-	delins	1.2E-05		1
rs267607144	TRPV4	0.716	0.360	12	109800665	missense variant	C/T	snv			17
rs121913595	MPZ	0.742	0.160	1	161306785	missense variant	G/A;T	snv			10
rs104894080	GDAP1	0.790	0.120	8	74364005	missense variant	C/T	snv	3.2E-05	4.2E-05	8
rs121913603	MPZ	0.732	0.160	1	161306722	missense variant	T/C;G	snv	2.0E-05		8
rs80338933	SH3TC2	0.807	0.080	5	149026872	stop gained	G/A	snv	7.5E-04; 4.0E-06	6.6E-04	8
rs121918054	POLG	0.807	0.240	15	89323460	missense variant	C/G;T	snv	6.9E-04; 4.0E-06		7
rs104894077	GDAP1	0.790	0.080	8	74361886	stop gained	C/T	snv	7.6E-05	1.5E-04	6
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			6
rs119103268	MFN2	0.827	0.080	1	11992689	missense variant	C/T	snv			5
rs137852973	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.200	11	62702493	missense variant	G/A;C	snv		7.0E-06	5
rs267607143	TRPV4	0.851	0.080	12	109798823	missense variant	G/A	snv		7.0E-06	5
rs267607146	TRPV4	0.851	0.080	12	109800666	missense variant	G/A;T	snv		7.0E-06	5
rs60864230	LMNA	0.790	0.280	1	156130658	missense variant	G/A;C;T	snv	4.0E-06		5
rs104894078	GDAP1	0.851	0.080	8	74360184	missense variant	C/T	snv		7.0E-06	4