DisGeNET - a database of gene-disease associations

List of associated variants

Mitochondrial DNA Depletion Syndrome 1, C4551995

Source: CLINVAR ×

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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	21
rs113994098	POLG	0.742	0.320	15	89321792	missense variant	C/T	snv	1.5E-04	2.7E-04	9
rs113994096	POLG	0.827	0.080	15	89325639	missense variant	G/A	snv	1.5E-03	1.6E-03	7
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
rs1556488264	TYMP ; SCO2	0.925	0.120	22	50527165	inframe deletion	AGC/-	delins			4
rs761665644	TYMP ; SCO2	0.925	0.120	22	50527606	missense variant	T/G	snv	8.0E-06		4
rs1060499532	SCO2 ; TYMP	1.000		22	50526338	missense variant	A/G	snv			1
rs1060499533	SCO2 ; TYMP	1.000		22	50526293	missense variant	A/G	snv			1
rs1064792865	SCO2 ; TYMP	1.000		22	50527716	start lost	A/C	snv			1
rs1064792867	SCO2 ; TYMP	1.000		22	50527611	missense variant	A/C	snv			1
rs1064792868	SCO2 ; TYMP	1.000		22	50527223	missense variant	A/G	snv			1
rs1064792869	SCO2 ; TYMP	1.000		22	50527215	missense variant	C/T	snv			1
rs1064792870	SCO2 ; TYMP	1.000		22	50527170	missense variant	T/G	snv		7.0E-06	1
rs1064792873	SCO2 ; TYMP	1.000		22	50526141	missense variant	C/T	snv			1
rs1064792874	SCO2 ; TYMP	1.000		22	50526019	missense variant	C/T	snv			1
rs1064792875	SCO2 ; TYMP	1.000		22	50525908	stop gained	C/T	snv			1
rs1064792876	SCO2 ; TYMP	1.000		22	50526575	splice donor variant	C/G;T	snv			1
rs1064792877	SCO2 ; TYMP	1.000		22	50526143	splice acceptor variant	T/C;G	snv			1
rs1064792878	SCO2 ; TYMP	1.000		22	50526000	splice donor variant	C/T	snv		7.0E-06	1
rs1064792887	SCO2 ; TYMP	1.000		22	50527210	frameshift variant	G/-	delins			1
rs1064792888	SCO2 ; TYMP	1.000		22	50526720	frameshift variant	G/-	delins			1
rs1064792889	SCO2 ; TYMP	1.000		22	50525908	frameshift variant	C/-	delins			1