rs113994032

Orientation

minus

Stabilized

minus

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

Make rs113994032(C;T)

Make rs113994032(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

27366881

Gene

EIF2B4

is a	snp
is	mentioned by
dbSNP	rs113994032
dbSNP (classic)	rs113994032
ClinGen	rs113994032
ebi	rs113994032
HLI	rs113994032
Exac	rs113994032
Gnomad	rs113994032
Varsome	rs113994032
LitVar	rs113994032
Map	rs113994032
PheGenI	rs113994032
Biobank	rs113994032
1000 genomes	rs113994032
hgdp	rs113994032
ensembl	rs113994032
geneview	rs113994032
scholar	rs113994032
google	rs113994032
pharmgkb	rs113994032
gwascentral	rs113994032
openSNP	rs113994032
23andMe	rs113994032
SNPshot	rs113994032
SNPdbe	rs113994032
MSV3d	rs113994032
GWAS Ctlg	rs113994032

Max Magnitude

0

ClinVar
Risk	rs113994032(T;T)
Alt	rs113994032(T;T)
Reference	Rs113994032(C;C)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B4
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	1
HGVS	NC_000002.11:g.27589748G>A
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also