DisGeNET - a database of gene-disease associations

List of associated variants

Mevalonic Aciduria, C1959626

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
rs28934897	MVK	0.790	0.400	12	109596515	missense variant	G/A	snv	1.6E-03	1.5E-03	10
rs104895304	MVK	0.827	0.280	12	109591275	missense variant	T/C	snv	1.5E-04	1.7E-04	5
rs104895301	MVK	0.851	0.240	12	109586098	missense variant	G/A	snv	4.0E-06	1.4E-05	4
rs104895317	MVK	0.851	0.280	12	109595142	missense variant	G/A	snv	9.6E-05	6.3E-05	4
rs104895319	MVK	0.851	0.240	12	109595070	missense variant	G/A	snv	2.0E-05	7.0E-06	4
rs104895382	MVK	0.851	0.240	12	109579921	missense variant	T/C	snv	3.2E-05	7.0E-05	4
rs104895322	MMAB ; MVK	0.882	0.240	12	109574893	frameshift variant	-/T	delins			3
rs104895308	MVK	0.882	0.200	12	109595118	missense variant	G/A	snv			3
rs104895324	MVK	0.882	0.240	12	109596525	missense variant	A/G	snv	3.6E-05	4.9E-05	3
rs104895332	MVK	0.882	0.240	12	109586102	missense variant	T/C	snv	1.2E-05	3.5E-05	3
rs104895352	MVK	0.882	0.240	12	109591302	missense variant	G/A	snv	8.0E-06	2.1E-05	3
rs1566147222	MVK	0.882	0.240	12	109586039	stop gained	T/A	snv			3
rs778608015	ANXA5	0.925	0.200	4	121669702	missense variant	G/A;C	snv	8.0E-06		2
rs138258349	DNAH8	0.925	0.200	6	38737215	missense variant	T/C	snv	6.4E-05	3.7E-04	2
rs753716740	IL4I1 ; NUP62	0.925	0.200	19	49909002	missense variant	G/A	snv	4.0E-06		2
rs104895295	MMAB ; MVK	0.925	0.200	12	109574881	missense variant	A/C;G	snv	4.1E-06; 4.1E-06		2
rs144069312	MMAB ; MVK	0.925	0.200	12	109574893	missense variant	A/C	snv	4.1E-06; 4.1E-06	7.0E-06	2
rs104895316	MVK	0.925	0.200	12	109591266	missense variant	T/C;G	snv			2
rs104895373	MVK	0.925	0.240	12	109581434	frameshift variant	-/C	delins			2
rs11614976	MVK	0.925	0.200	12	109595145	missense variant	G/A	snv			2
rs121917789	MVK	0.925	0.200	12	109595044	missense variant	A/C;G	snv	4.0E-06		2
rs148576029	MVK	0.925	0.200	12	109590850	missense variant	A/T	snv	4.0E-06		2
rs202172198	MVK	0.925	0.200	12	109586086	missense variant	G/A;C;T	snv	1.6E-05; 4.0E-06; 4.0E-06		2
rs372446928	NUP62 ; IL4I1	0.925	0.200	19	49909008	missense variant	G/A	snv	1.6E-05		2
rs185313167	SQSTM1	0.925	0.200	5	179833083	missense variant	C/T	snv	8.0E-06		2