DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy ×

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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
rs137852771	GAREM2 ; HADHA	0.925	0.200	2	26194581	stop gained	G/A	snv	2.4E-05		2
rs769580842	GAREM2 ; HADHA	0.925	0.200	2	26193668	frameshift variant	AT/-	del		3.5E-05	2
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
rs137852770	HADHA	0.925	0.200	2	26204150	stop gained	G/A	snv		7.0E-06	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
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
rs1167218743	HADHA ; GAREM2	0.925	0.200	2	26192309	splice donor variant	C/A;G	snv		7.0E-06	2
rs779113356	HADHA ; GAREM2	0.925	0.200	2	26192343	frameshift variant	A/-	delins	4.0E-06		2
rs764623179	HADHB	0.925	0.240	2	26284908	missense variant	C/G;T	snv	4.0E-06		2
rs138966725	GAREM2 ; HADHA	1.000	0.200	2	26191498	missense variant	G/A;T	snv	2.0E-04	1.6E-04	1
rs137852773	HADHA	1.000	0.200	2	26214516	missense variant	A/T	snv	4.0E-06		1
rs781205883	HADHA	1.000	0.200	2	26236891	frameshift variant	GAGAT/-	delins	8.0E-06	7.0E-06	1
rs786204607	HADHA	1.000	0.200	2	26215149	missense variant	G/A	snv			1
rs749848370	HADHA ; GAREM2	1.000	0.200	2	26192311	frameshift variant	TAGGAGGCAGCTTCAGACT/-	delins	1.2E-05		1
rs113112630	HADHB	1.000	0.200	2	26263480	splice donor variant	G/A	snv	8.0E-06		1
rs1166120479	HADHB	1.000	0.200	2	26279229	missense variant	A/G	snv		7.0E-06	1
rs121913131	HADHB	1.000	0.200	2	26279292	missense variant	A/G	snv			1
rs121913132	HADHB	1.000	0.200	2	26263452	missense variant	G/A	snv	6.4E-05	4.9E-05	1
rs121913133	HADHB	1.000	0.200	2	26279244	missense variant	G/A;T	snv	1.2E-05		1
rs121913134	HADHB	1.000	0.200	2	26285513	missense variant	G/A	snv			1
rs267606859	HADHB	1.000	0.200	2	26285546	missense variant	T/A;C;G	snv	4.0E-06; 1.6E-05; 4.0E-06		1