rs113994053

Orientation

plus

Stabilized

plus

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

Make rs113994053(C;T)

Make rs113994053(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184137936

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994053
dbSNP (classic)	rs113994053
ClinGen	rs113994053
ebi	rs113994053
HLI	rs113994053
Exac	rs113994053
Gnomad	rs113994053
Varsome	rs113994053
LitVar	rs113994053
Map	rs113994053
PheGenI	rs113994053
Biobank	rs113994053
1000 genomes	rs113994053
hgdp	rs113994053
ensembl	rs113994053
geneview	rs113994053
scholar	rs113994053
google	rs113994053
pharmgkb	rs113994053
gwascentral	rs113994053
openSNP	rs113994053
23andMe	rs113994053
SNPshot	rs113994053
SNPdbe	rs113994053
MSV3d	rs113994053
GWAS Ctlg	rs113994053

Max Magnitude

0

OMIM	603945
Desc
Variant	0008
Related	also

ClinVar
Risk	rs113994053(T;T)
Alt	rs113994053(T;T)
Reference	Rs113994053(C;C)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter not provided
Variation	info
Gene	EIF2B5
CLNDBN	Leukoencephalopathy with vanishing white matter not provided
Reversed	0
HGVS	NC_000003.11:g.183855724C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006313.4, RCV000416181.1,

[PMID 15136690] Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.