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
rs587777175	TFG	0.925	0.080	3	100728759	missense variant	C/T	snv	4.0E-05	7.0E-06	2
rs886037832	TWNK ; MRPL43	0.851	0.280	10	100988541	frameshift variant	T/-	delins			9
rs374997012	TWNK ; MRPL43	0.851	0.280	10	100989114	missense variant	C/T	snv	8.0E-06	7.0E-06	9
rs284489	ZFPM2	0.882	0.080	8	104945792	intron variant	A/G	snv		0.45	3
rs1555303073	COL4A1	0.851	0.120	13	110176912	missense variant	C/T	snv			6
rs1184021143	SLC25A46	0.925	0.080	5	110761295	missense variant	G/A	snv	4.0E-06		2
rs746681765	SLC25A46	0.882	0.080	5	110761543	missense variant	C/A;T	snv	2.8E-05		3
rs139194636	WARS2	0.882	0.240	1	119033203	missense variant	T/C	snv	6.4E-05	2.3E-04	6
rs757600616	WARS2	0.882	0.240	1	119033279	stop gained	G/A	snv	1.2E-05		6
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs119103265	MFN2	0.827	0.120	1	12002033	missense variant	C/T	snv			5
rs1020764190	AFG3L2	0.925	0.120	18	12351330	missense variant	G/A	snv			2
rs1057518927	OAT	0.925	0.080	10	124402952	missense variant	T/C	snv			4
rs768643552	PMPCA	0.851	0.240	9	136418630	missense variant	G/A;C	snv	4.0E-06		13
rs753611141	PMPCA	0.827	0.280	9	136418847	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		14
rs1057517686	ATAD3A	0.827	0.120	1	1529299	missense variant	C/T	snv			7
rs151103940	OPA1	0.882	0.160	3	193614929	missense variant	A/G	snv	4.0E-04	1.1E-03	3
rs104893753	OPA1	0.925	0.080	3	193643005	stop gained	C/T	snv			2
rs1231502335	OPA1	1.000	0.080	3	193643579	missense variant	A/G	snv	4.0E-06		1
rs80356529	OPA1	0.827	0.240	3	193643996	missense variant	G/A;C	snv			9
rs1177373525	LOC102724808 ; OPA1	0.925	0.080	3	193666331	missense variant	A/G	snv	1.2E-05		2
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs672601369	KIF1A	0.790	0.120	2	240783780	missense variant	C/T	snv			10