DisGeNET - a database of gene-disease associations

List of associated variants

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V, C1833308

Source: ALL

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
rs137852973	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.200	11	62702493	missense variant	G/A;C	snv		7.0E-06	13
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs550423482	PNPO	0.882	0.160	17	47946670	missense variant	G/A;T	snv	4.0E-05		6
rs879253928	BSCL2 ; GNG3 ; HNRNPUL2-BSCL2	0.882	0.080	11	62705433	missense variant	A/G	snv			3
rs1554337974	GARS1	0.882	0.080	7	30609643	missense variant	C/T	snv			3
rs1060502838	GARS1	0.925	0.080	7	30621448	missense variant	A/G	snv			2
rs137852645	GARS1	0.925	0.080	7	30599996	missense variant	A/G	snv			2
rs137852646	GARS1	0.925	0.080	7	30628598	missense variant	G/A;C	snv			2
rs137852647	GARS1	0.925	0.080	7	30626280	missense variant	G/A	snv	2.0E-05	7.0E-06	2
rs370531212	GARS1	0.925	0.080	7	30599954	missense variant	C/T	snv		1.4E-05	2
rs863224873	GARS1	0.925	0.080	7	30612212	missense variant	A/C;G;T	snv			2
rs1169067903	NUP214	0.925	0.040	9	131197276	missense variant	G/A	snv			2
rs574548474	NUP214	0.925	0.040	9	131128389	missense variant	T/C	snv		7.0E-06	2
rs137852644	GARS1	1.000	0.040	7	30601179	missense variant	T/C	snv			1
rs766280100	GARS1	1.000	0.040	7	30628653	missense variant	G/C	snv			1
rs749865861	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.040	11	62705535	missense variant	G/A	snv	4.0E-06		1