DisGeNET - a database of gene-disease associations

List of associated variants

Optic Atrophy, C0029124

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
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1020764190	AFG3L2	0.925	0.120	18	12351330	missense variant	G/A	snv			2
rs104893753	OPA1	0.925	0.080	3	193643005	stop gained	C/T	snv			2
rs104894270	NDUFS3	0.882	0.160	11	47582436	missense variant	C/T	snv	1.6E-05	2.8E-05	3
rs1057517686	ATAD3A	0.827	0.120	1	1529299	missense variant	C/T	snv			7
rs1057518927	OAT	0.925	0.080	10	124402952	missense variant	T/C	snv			4
rs1057519286	MECR	0.882	0.080	1	29196234	stop gained	A/C;G	snv			3
rs1057519287	MECR	0.882	0.080	1	29216612	frameshift variant	TGAT/-	delins			3
rs1177373525	LOC102724808 ; OPA1	0.925	0.080	3	193666331	missense variant	A/G	snv	1.2E-05		2
rs1184021143	SLC25A46	0.925	0.080	5	110761295	missense variant	G/A	snv	4.0E-06		2
rs119103265	MFN2	0.827	0.120	1	12002033	missense variant	C/T	snv			5
rs1231502335	OPA1	1.000	0.080	3	193643579	missense variant	A/G	snv	4.0E-06		1
rs139194636	WARS2	0.882	0.240	1	119033203	missense variant	T/C	snv	6.4E-05	2.3E-04	6
rs145192716	MECR	0.882	0.080	1	29200574	missense variant	G/A	snv	6.4E-05	6.3E-05	3
rs151103940	OPA1	0.882	0.160	3	193614929	missense variant	A/G	snv	4.0E-04	1.1E-03	3
rs1555303073	COL4A1	0.851	0.120	13	110176912	missense variant	C/T	snv			6
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs201754030	TSFM	0.925	0.200	12	57796461	stop gained	C/T	snv	1.5E-03	1.3E-03	5
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs284489	ZFPM2	0.882	0.080	8	104945792	intron variant	A/G	snv		0.45	3
rs28939714	NDUFS3	0.882	0.160	11	47582140	missense variant	C/G;T	snv	4.0E-06		3
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs374997012	TWNK ; MRPL43	0.851	0.280	10	100989114	missense variant	C/T	snv	8.0E-06	7.0E-06	9
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19