rs113994074

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs113994074(G;T)

Make rs113994074(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184141925

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994074
dbSNP (classic)	rs113994074
ClinGen	rs113994074
ebi	rs113994074
HLI	rs113994074
Exac	rs113994074
Gnomad	rs113994074
Varsome	rs113994074
LitVar	rs113994074
Map	rs113994074
PheGenI	rs113994074
Biobank	rs113994074
1000 genomes	rs113994074
hgdp	rs113994074
ensembl	rs113994074
geneview	rs113994074
scholar	rs113994074
google	rs113994074
pharmgkb	rs113994074
gwascentral	rs113994074
openSNP	rs113994074
23andMe	rs113994074
SNPshot	rs113994074
SNPdbe	rs113994074
MSV3d	rs113994074
GWAS Ctlg	rs113994074

Max Magnitude

0

OMIM	603945
Desc
Variant	0003
Related	also

ClinVar
Risk	rs113994074(T;T)
Alt	rs113994074(T;T)
Reference	Rs113994074(G;G)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B5
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	0
HGVS	NC_000003.11:g.183859713G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006307.4,

[PMID 11704758] Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.