DisGeNET - a database of gene-disease associations

List of associated variants

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, C4225153

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
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs113994098	POLG	0.742	0.320	15	89321792	missense variant	C/T	snv	1.5E-04	2.7E-04	12
rs113994096	POLG	0.827	0.080	15	89325639	missense variant	G/A	snv	1.5E-03	1.6E-03	8
rs121918054	POLG	0.807	0.240	15	89323460	missense variant	C/G;T	snv	6.9E-04; 4.0E-06		8
rs113994094	POLG	0.827	0.080	15	89330184	missense variant	G/A	snv	1.5E-03	1.6E-03	6
rs121918044	POLG	0.807	0.240	15	89329055	missense variant	A/C	snv	5.7E-05	3.5E-05	6
rs144500145	POLG	0.807	0.240	15	89321780	missense variant	G/A	snv	4.8E-05	6.3E-05	6
rs201732356	POLG	0.807	0.240	15	89318737	missense variant	G/A;C	snv	8.0E-06		6
rs145843073	MIR6766 ; POLG	0.882	0.080	15	89327198	missense variant	T/C	snv	4.7E-04	6.3E-04	3
rs121918048	POLG	0.882	0.200	15	89320953	missense variant	G/A	snv			3
rs121918056	POLG	0.882	0.080	15	89330257	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs769827124	POLG	0.882	0.200	15	89322749	missense variant	G/A	snv	2.4E-05	1.4E-05	3
rs1131691575	POLG ; FANCI	0.925	0.080	15	89317469	missense variant	C/T	snv	8.0E-06	1.4E-05	3
rs769410130	POLG	0.925	0.080	15	89329051	missense variant	G/A;C	snv	8.1E-06; 1.2E-05		2
rs796052906	POLG	0.925	0.080	15	89325456	missense variant	G/C	snv	8.3E-06	7.0E-06	2
rs781168350	MIR6766 ; POLG	1.000		15	89326639	missense variant	C/T	snv	4.0E-06		1
rs1010372555	POLG	1.000		15	89318712	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs121918045	POLG	1.000		15	89333747	missense variant	C/G	snv			1
rs121918053	POLG	1.000		15	89321777	missense variant	G/A	snv	1.2E-05	2.8E-05	1
rs2307440	POLG	1.000		15	89318587	missense variant	G/A	snv	1.9E-04	1.5E-04	1
rs556925652	POLG	1.000		15	89325664	missense variant	G/A	snv	2.0E-05		1
rs61752784	POLG	1.000		15	89330133	missense variant	C/G	snv	3.4E-03	3.6E-03	1
rs745539599	POLG	1.000		15	89329042	missense variant	C/A	snv	4.0E-06	7.0E-06	1
rs753410045	POLG	1.000		15	89318710	missense variant	C/G;T	snv	2.0E-05		1
rs763393580	POLG	1.000		15	89321194	missense variant	C/T	snv	4.0E-05	2.1E-05	1