DisGeNET - a database of gene-disease associations

List of shared variants

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, C3711645

Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy

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
rs137852769	GAREM2 ; HADHA	0.827	0.280	2	26195184	missense variant	C/G	snv	1.2E-03	1.0E-03	7
rs1057516417	HADHA	0.925	0.200	2	26234216	splice donor variant	C/T	snv			2
rs1057516460	HADHA	0.925	0.200	2	26204190	splice acceptor variant	GATGCCTGCA/-	delins			2
rs1167218743	HADHA ; GAREM2	0.925	0.200	2	26192309	splice donor variant	C/A;G	snv		7.0E-06	2
rs137852770	HADHA	0.925	0.200	2	26204150	stop gained	G/A	snv		7.0E-06	2
rs137852771	GAREM2 ; HADHA	0.925	0.200	2	26194581	stop gained	G/A	snv	2.4E-05		2
rs137852774	HADHA	0.925	0.200	2	26214447	missense variant	A/G;T	snv	4.0E-06; 8.0E-06		2
rs137852775	HADHA	0.925	0.200	2	26214490	stop gained	G/A	snv			2
rs769580842	GAREM2 ; HADHA	0.925	0.200	2	26193668	frameshift variant	AT/-	del		3.5E-05	2
rs779113356	HADHA ; GAREM2	0.925	0.200	2	26192343	frameshift variant	A/-	delins	4.0E-06		2
rs781222705	HADHA	0.925	0.200	2	26238931	splice region variant	T/C	snv	5.2E-05		2
rs786205088	HADHA	0.925	0.200	2	26238933	splice donor variant	C/T	snv			2