DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Childhood Ataxia with Central Nervous System Hypomyelinization ×

Variants associated to the Gene: EIF2B4 ×

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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
rs113994028	EIF2B4	1.000	0.040	2	27368104	missense variant	C/A;T	snv	2.7E-05	2.8E-05	1
rs113994031	EIF2B4	1.000	0.040	2	27367536	missense variant	A/C;G	snv	2.0E-05	2.1E-05	1
rs113994038	EIF2B4	0.925	0.120	2	27364579	missense variant	A/G	snv		1.4E-05	1
rs113994040	EIF2B4	0.925	0.120	2	27364507	missense variant	A/G	snv	4.0E-06	7.0E-06	1