rs113994024

Orientation

minus

Stabilized

minus

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

Make rs113994024(A;A)

Make rs113994024(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

44881722

Gene

EIF2B3

is a	snp
is	mentioned by
dbSNP	rs113994024
dbSNP (classic)	rs113994024
ClinGen	rs113994024
ebi	rs113994024
HLI	rs113994024
Exac	rs113994024
Gnomad	rs113994024
Varsome	rs113994024
LitVar	rs113994024
Map	rs113994024
PheGenI	rs113994024
Biobank	rs113994024
1000 genomes	rs113994024
hgdp	rs113994024
ensembl	rs113994024
geneview	rs113994024
scholar	rs113994024
google	rs113994024
pharmgkb	rs113994024
gwascentral	rs113994024
openSNP	rs113994024
23andMe	rs113994024
SNPshot	rs113994024
SNPdbe	rs113994024
MSV3d	rs113994024
GWAS Ctlg	rs113994024

Max Magnitude

0

OMIM	606273
Desc
Variant	0001
Related	also

ClinVar
Risk	rs113994024(A;A)
Alt	rs113994024(A;A)
Reference	Rs113994024(G;G)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B3
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	1
HGVS	NC_000001.10:g.45347394C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004687.3,

[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.