rs113994078

Orientation

plus

Stabilized

plus

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

Make rs113994078(C;T)

Make rs113994078(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184142048

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994078
dbSNP (classic)	rs113994078
ClinGen	rs113994078
ebi	rs113994078
HLI	rs113994078
Exac	rs113994078
Gnomad	rs113994078
Varsome	rs113994078
LitVar	rs113994078
Map	rs113994078
PheGenI	rs113994078
Biobank	rs113994078
1000 genomes	rs113994078
hgdp	rs113994078
ensembl	rs113994078
geneview	rs113994078
scholar	rs113994078
google	rs113994078
pharmgkb	rs113994078
gwascentral	rs113994078
openSNP	rs113994078
23andMe	rs113994078
SNPshot	rs113994078
SNPdbe	rs113994078
MSV3d	rs113994078
GWAS Ctlg	rs113994078

Max Magnitude

0

ClinVar
Risk	rs113994078(T;T)
Alt	rs113994078(T;T)
Reference	Rs113994078(C;C)
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.183859836C>T
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also