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
rs746681765	SLC25A46	0.882	0.080	5	110761543	missense variant	C/A;T	snv	2.8E-05		3
rs1184021143	SLC25A46	0.925	0.080	5	110761295	missense variant	G/A	snv	4.0E-06		2
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs284489	ZFPM2	0.882	0.080	8	104945792	intron variant	A/G	snv		0.45	3
rs886041091	NTRK2	0.807	0.120	9	84751990	missense variant	A/G	snv			18
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs753611141	PMPCA	0.827	0.280	9	136418847	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		14
rs768643552	PMPCA	0.851	0.240	9	136418630	missense variant	G/A;C	snv	4.0E-06		13
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
rs1057518927	OAT	0.925	0.080	10	124402952	missense variant	T/C	snv			4
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs104894270	NDUFS3	0.882	0.160	11	47582436	missense variant	C/T	snv	1.6E-05	2.8E-05	3
rs28939714	NDUFS3	0.882	0.160	11	47582140	missense variant	C/G;T	snv	4.0E-06		3
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
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1555303073	COL4A1	0.851	0.120	13	110176912	missense variant	C/T	snv			6
rs730882246	ISCA2 ; NPC2	0.807	0.200	14	74494329	missense variant	G/A	snv			8
rs730882240	PIGQ	1.000	0.080	16	574693	stop gained	C/T	snv		2.1E-05	3
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1020764190	AFG3L2	0.925	0.120	18	12351330	missense variant	G/A	snv			2
rs397514477	C19orf12	0.925	0.080	19	29708415	missense variant	G/A	snv	8.0E-06	2.8E-05	5
rs80356524	OPA3	0.882	0.200	19	45553777	missense variant	C/T	snv			3