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
rs1057519287	MECR	0.882	0.080	1	29216612	frameshift variant	TGAT/-	delins			3
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs672601367	KIF1A	0.851	0.080	2	240785066	missense variant	T/G	snv			7
rs139194636	WARS2	0.882	0.240	1	119033203	missense variant	T/C	snv	6.4E-05	2.3E-04	6
rs1057518927	OAT	0.925	0.080	10	124402952	missense variant	T/C	snv			4
rs759218713	MECR	0.882	0.080	1	29196235	missense variant	T/C	snv	8.0E-06	7.0E-06	3
rs886037832	TWNK ; MRPL43	0.851	0.280	10	100988541	frameshift variant	T/-	delins			9
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs753611141	PMPCA	0.827	0.280	9	136418847	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		14
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs768643552	PMPCA	0.851	0.240	9	136418630	missense variant	G/A;C	snv	4.0E-06		13
rs80356529	OPA1	0.827	0.240	3	193643996	missense variant	G/A;C	snv			9
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs730882246	ISCA2 ; NPC2	0.807	0.200	14	74494329	missense variant	G/A	snv			8
rs74315205	WFS1 ; LOC107986257	0.807	0.360	4	6302385	missense variant	G/A	snv			7
rs757600616	WARS2	0.882	0.240	1	119033279	stop gained	G/A	snv	1.2E-05		6
rs397514477	C19orf12	0.925	0.080	19	29708415	missense variant	G/A	snv	8.0E-06	2.8E-05	5
rs145192716	MECR	0.882	0.080	1	29200574	missense variant	G/A	snv	6.4E-05	6.3E-05	3
rs1020764190	AFG3L2	0.925	0.120	18	12351330	missense variant	G/A	snv			2
rs1184021143	SLC25A46	0.925	0.080	5	110761295	missense variant	G/A	snv	4.0E-06		2
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17