DisGeNET - a database of gene-disease associations

List of associated variants

Ophthalmoplegia, C0029089

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
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs781939614	PEX11B	0.851	0.240	1	145916914	stop gained	G/A	snv	4.0E-06		11
rs781984979	PEX11B	0.851	0.240	1	145912346	stop gained	G/A	snv	4.0E-06		11
rs80356529	OPA1	0.827	0.240	3	193643996	missense variant	G/A;C	snv			9
rs374997012	TWNK ; MRPL43	0.851	0.280	10	100989114	missense variant	C/T	snv	8.0E-06	7.0E-06	9
rs886037832	TWNK ; MRPL43	0.851	0.280	10	100988541	frameshift variant	T/-	delins			9
rs141970897	CRAT	0.925	0.200	9	129104269	missense variant	T/C	snv	1.1E-03	7.8E-04	8
rs762425351	CRAT	0.925	0.200	9	129095573	missense variant	C/T	snv	1.2E-04	7.7E-05	8
rs121434589	MYH2 ; MYHAS	0.851	0.200	17	10535137	missense variant	C/T	snv			8
rs786201023	MYHAS ; MYH2	1.000	0.160	17	10523154	missense variant	A/G	snv			3
rs267606799	FBN1	1.000	0.120	15	48467975	missense variant	C/A;G	snv			2