DisGeNET - a database of gene-disease associations

List of associated variants

Multiple Acyl Coenzyme A Dehydrogenase Deficiency, C0268596

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
rs121964954	ETFDH	0.882	0.160	4	158682269	missense variant	G/A	snv	1.4E-04	3.5E-05	3
rs387907170	ETFDH	0.925	0.080	4	158703436	missense variant	T/C	snv	4.0E-06		3
rs119458969	ETFA	0.925	0.080	15	76286463	missense variant	A/C	snv	2.0E-05	7.0E-06	2
rs119458970	ETFA	0.925	0.080	15	76274431	missense variant	G/A	snv	4.4E-05	7.7E-05	2
rs119458971	ETFA	0.925	0.080	15	76292436	missense variant	C/T	snv	1.2E-05	2.8E-05	2
rs104894677	ETFB	0.925	0.080	19	51347006	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs104894678	ETFB	0.925	0.080	19	51350385	missense variant	C/T	snv	1.7E-05	2.1E-05	2
rs1177389968	ETFDH	0.925	0.160	4	158684619	missense variant	G/A	snv		7.0E-06	2
rs121964955	ETFDH	0.925	0.080	4	158685137	missense variant	G/A;C;T	snv	1.6E-05; 8.0E-06		2
rs121964956	ETFDH	0.925	0.080	4	158682399	missense variant	T/A;C	snv	8.0E-06; 4.0E-06		2
rs377656387	ETFDH	0.925	0.080	4	158706351	missense variant	C/T	snv	2.4E-05	2.8E-05	2
rs1339093491	ETHE1	0.925	0.200	19	43508031	missense variant	T/A;C	snv	4.0E-06		2
rs876661309	FLAD1	0.925	0.080	1	154990456	inframe deletion	CCT/-	delins			2
rs876661310	FLAD1	0.925	0.080	1	154988299	frameshift variant	-/GC	delins		7.0E-06	2
rs876661311	FLAD1	0.925	0.080	1	154988567	frameshift variant	T/-	delins			2
rs876661312	FLAD1	0.925	0.080	1	154988258	frameshift variant	GCAGGGGGCATC/CA	delins			2
rs876661313	FLAD1	0.925	0.080	1	154988129	frameshift variant	TTCT/-	delins			2
rs771466122	FLAD1 ; LENEP	0.925	0.080	1	154992746	missense variant	C/T	snv	1.6E-05	4.9E-05	2
rs760149442	MUC1	0.925	0.200	1	155187245	missense variant	C/T	snv	2.4E-05	1.4E-05	2
rs1298299792	ETFA	1.000	0.080	15	76286437	frameshift variant	AC/-	delins	1.2E-05		1
rs11559290	ETFDH	1.000	0.080	4	158680524	missense variant	C/T	snv	0.82	0.68	1
rs1358691961	ETFDH	1.000	0.080	4	158699051	missense variant	A/G	snv	4.0E-06		1
rs1442766122	ETFDH	1.000	0.080	4	158706228	missense variant	C/T	snv	4.0E-06		1
rs1466787789	ETFDH	1.000	0.080	4	158703447	missense variant	G/C	snv			1
rs1482632936	ETFDH	1.000	0.080	4	158690406	missense variant	A/C	snv	4.0E-06		1