DisGeNET - a database of gene-disease associations

Disease: Neuropathy

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
rs121918312	BAG3	0.776	0.160	10	119672373	missense variant	C/A;T	snv			11
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	9
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			9
rs28940291	MFN2	0.776	0.080	1	11992660	missense variant	G/A	snv	4.0E-06		9
rs104894077	GDAP1	0.790	0.080	8	74361886	stop gained	C/T	snv	7.6E-05	1.5E-04	8
rs1553259662	MPZ	0.827	0.200	1	161306821	missense variant	A/G	snv			7
rs104894075	GDAP1	0.851	0.080	8	74362940	stop gained	C/G	snv	4.0E-06	2.1E-05	5
rs104894078	GDAP1	0.851	0.080	8	74360184	missense variant	C/T	snv		7.0E-06	5
rs121913602	MPZ	0.851	0.120	1	161307308	missense variant	T/A	snv			5
rs104894707	PRX	0.882	0.080	19	40396207	stop gained	A/T	snv	8.0E-06	5.6E-05	4
rs121908160	KIF1B	0.882	0.080	1	10258602	missense variant	A/T	snv			4
rs145770066	MIR6800 ; MED25	0.882	0.080	19	49830790	missense variant	C/T	snv	3.8E-03	4.3E-03	4
rs397515442	GDAP1	0.882	0.080	8	74360194	missense variant	A/G	snv			4
rs57105105	NEFL ; MIR6841	0.925	0.080	8	24953776	missense variant	C/T	snv			4
rs879253954	PMP22	0.882	0.160	17	15230951	missense variant	C/A;T	snv			4
rs1060503021	HSPB1	0.925	0.080	7	76304077	stop gained	GC/CT	mnv			3
rs121909088	DNM2	0.925	0.080	19	10819992	missense variant	A/G	snv			3
rs267606772	DNM2	0.925	0.080	19	10793799	missense variant	G/A	snv			3
rs863225023	HSPB1	0.925	0.080	7	76304078	stop gained	C/T	snv	4.0E-06	1.4E-05	3