DisGeNET - a database of gene-disease associations

List of associated variants

OVARIOLEUKODYSTROPHY, C1847967

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
rs113994049	EIF2B5	0.882	0.160	3	184137637	missense variant	G/A	snv	2.1E-04	2.7E-04	4
rs104894425	EIF2B2	0.882	0.120	14	75005906	missense variant	A/G	snv	3.2E-05	7.0E-05	3
rs104894428	EIF2B2	0.925	0.120	14	75004815	missense variant	C/A;T	snv	1.2E-05		2
rs113994014	EIF2B2	0.925	0.120	14	75005875	frameshift variant	ATGGCT/TG	delins			2
rs113994038	EIF2B4	0.925	0.120	2	27364579	missense variant	A/G	snv		1.4E-05	2
rs113994040	EIF2B4	0.925	0.120	2	27364507	missense variant	A/G	snv	4.0E-06	7.0E-06	2
rs113994055	EIF2B5	0.925	0.120	3	184137974	missense variant	C/T	snv		7.0E-06	2
rs113994060	EIF2B5	0.925	0.120	3	184140470	missense variant	G/A	snv			2
rs104894427	EIF2B2	1.000	0.120	14	75004850	stop gained	C/T	snv	1.2E-05; 1.2E-05	1.4E-05	1