DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary motor and sensory neuropathy with optic atrophy (disorder), C0393807

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
rs119103263	MFN2	0.827	0.240	1	11992659	missense variant	C/T	snv			19
rs28940291	MFN2	0.776	0.080	1	11992660	missense variant	G/A	snv	4.0E-06		9
rs119103267	MFN2	0.790	0.160	1	12009641	missense variant	C/T	snv	2.5E-04	2.8E-04	7
rs119103268	MFN2	0.827	0.080	1	11992689	missense variant	C/T	snv			6
rs119103265	MFN2	0.827	0.120	1	12002033	missense variant	C/T	snv			5
rs28940292	MFN2	0.851	0.080	1	12011510	missense variant	G/C	snv			4
rs864622480	MFN2	0.925	0.080	1	11998999	missense variant	C/A;G	snv			2
rs1057517987	MFN2	1.000	0.080	1	12004083	stop gained	C/T	snv			1
rs119103264	MFN2	1.000	0.080	1	12001411	missense variant	A/G	snv			1
rs119103266	MFN2	1.000	0.080	1	11998787	missense variant	C/T	snv			1
rs1553145402	MFN2	1.000	0.080	1	12006658	frameshift variant	-/G	delins			1