rs113994068

Orientation

plus

Stabilized

plus

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

Make rs113994068(C;T)

Make rs113994068(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184140589

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994068
dbSNP (classic)	rs113994068
ClinGen	rs113994068
ebi	rs113994068
HLI	rs113994068
Exac	rs113994068
Gnomad	rs113994068
Varsome	rs113994068
LitVar	rs113994068
Map	rs113994068
PheGenI	rs113994068
Biobank	rs113994068
1000 genomes	rs113994068
hgdp	rs113994068
ensembl	rs113994068
geneview	rs113994068
scholar	rs113994068
google	rs113994068
pharmgkb	rs113994068
gwascentral	rs113994068
openSNP	rs113994068
23andMe	rs113994068
SNPshot	rs113994068
SNPdbe	rs113994068
MSV3d	rs113994068
GWAS Ctlg	rs113994068

Max Magnitude

0

ClinVar
Risk	rs113994068(T;T)
Alt	rs113994068(T;T)
Reference	Rs113994068(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.183858377C>T
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also