rs104894426

Orientation

plus

Stabilized

plus

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

Make rs104894426(A;A)

Make rs104894426(A;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75009079

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs104894426
dbSNP (classic)	rs104894426
ClinGen	rs104894426
ebi	rs104894426
HLI	rs104894426
Exac	rs104894426
Gnomad	rs104894426
Varsome	rs104894426
LitVar	rs104894426
Map	rs104894426
PheGenI	rs104894426
Biobank	rs104894426
1000 genomes	rs104894426
hgdp	rs104894426
ensembl	rs104894426
geneview	rs104894426
scholar	rs104894426
google	rs104894426
pharmgkb	rs104894426
gwascentral	rs104894426
openSNP	rs104894426
23andMe	rs104894426
SNPshot	rs104894426
SNPdbe	rs104894426
MSV3d	rs104894426
GWAS Ctlg	rs104894426

Max Magnitude

0

OMIM	606454
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894426(A;A)
Alt	rs104894426(A;A)
Reference	Rs104894426(T;T)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B2
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	0
HGVS	NC_000014.8:g.75475782T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004585.3,

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

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