DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Ataxia with Central Nervous System Hypomyelinization, C1858991

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
rs113994063	EIF2B5	0.882	0.160	3	184140517	missense variant	C/G;T	snv	1.6E-05	2.8E-05	5
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
rs907041830	EIF2B5	1.000	0.040	3	184140584	missense variant	A/G;T	snv	4.0E-06		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
rs113994016	EIF2B2	0.925	0.080	14	75006701	missense variant	A/G	snv	2.0E-05		2
rs397514648	EIF2B2	0.925	0.040	14	75003365	missense variant	T/A	snv	7.2E-05	2.8E-05	2
rs113994022	EIF2B3	0.925	0.040	1	44978349	missense variant	G/A	snv	8.8E-05	1.2E-04	2
rs141988913	EIF2B3	0.925	0.040	1	44978337	missense variant	C/T	snv	1.2E-05	4.2E-05	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
rs113994048	LOC105374249 ; EIF2B5	1.000	0.040	3	184136734	missense variant	A/T	snv	4.4E-05	2.1E-05	2
rs113994006	EIF2B1	1.000	0.040	12	123630396	splice donor variant	C/T	snv	6.0E-05	6.3E-05	1
rs113994007	EIF2B1	1.000	0.040	12	123624792	missense variant	T/A	snv	8.0E-06	7.0E-06	1
rs758746181	EIF2B1	1.000	0.040	12	123621850	missense variant	T/C	snv	7.2E-05		1
rs863225048	EIF2B1	1.000	0.040	12	123626429	missense variant	C/A	snv			1
rs863225049	EIF2B1	1.000	0.040	12	123621841	missense variant	G/C	snv			1
rs863225050	EIF2B1	1.000	0.040	12	123630210	missense variant	T/C	snv			1
rs863225051	EIF2B1	1.000	0.040	12	123624799	inframe deletion	TCC/-	delins			1
rs863225052	EIF2B1	1.000	0.040	12	123622674	missense variant	A/C;G	snv			1
rs104894426	EIF2B2	1.000	0.040	14	75009079	missense variant	T/A	snv	1.6E-05	7.0E-06	1
rs113994011	EIF2B2	1.000	0.040	14	75004889	missense variant	C/T	snv	8.0E-06	1.4E-05	1