DisGeNET - a database of gene-disease associations

List of associated variants

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3, C1836439

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
rs1554887097	MRPL43 ; TWNK	0.807	0.320	10	100989331	missense variant	G/A	snv			10
rs758026634	MRPL43 ; TWNK	0.827	0.240	10	100989280	missense variant	G/A;C	snv	2.0E-05		5
rs111033573	MRPL43 ; TWNK	1.000	0.200	10	100989285	missense variant	G/A;T	snv			2
rs111033577	MRPL43 ; TWNK	1.000	0.200	10	100989352	missense variant	T/C;G	snv			2
rs80356543	MRPL43 ; TWNK	0.925	0.240	10	100989165	missense variant	A/C;G	snv			2
rs1085307937	TWNK	0.925	0.200	10	100989835	missense variant	G/A	snv			2
rs1554887213	TWNK	1.000	0.200	10	100989774	splice acceptor variant	G/T	snv			2
rs1159929268	MRPL43 ; TWNK	1.000	0.200	10	100989117	missense variant	C/T	snv	4.0E-06		1
rs137852956	MRPL43 ; TWNK	1.000	0.200	10	100989118	missense variant	G/A;C	snv	1.2E-05		1
rs1554887075	MRPL43 ; TWNK	1.000	0.200	10	100989294	missense variant	G/C	snv			1
rs267606682	MRPL43 ; TWNK	1.000	0.200	10	100989330	missense variant	C/T	snv	4.0E-06	1.4E-05	1
rs111033572	TWNK	1.000	0.200	10	100989823	missense variant	G/C	snv			1
rs111033574	TWNK	1.000	0.200	10	100989822	stop gained	G/A;T	snv			1
rs11542127	TWNK	1.000	0.200	10	100989821	missense variant	G/C	snv			1
rs111033575	TWNK ; MRPL43	1.000	0.200	10	100989154	stop gained	G/A;T	snv			1
rs111033576	TWNK ; MRPL43	1.000	0.200	10	100989271	missense variant	G/A;C	snv	4.0E-06		1
rs111033579	TWNK ; MRPL43	1.000	0.200	10	100989316	missense variant	C/A;G;T	snv	4.0E-06		1
rs863223920	TWNK ; MRPL43	1.000	0.200	10	100989320	missense variant	C/G	snv			1