rs113994039

Orientation

minus

Stabilized

minus

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

Make rs113994039(C;T)

Make rs113994039(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

27364525

Gene

EIF2B4

is a	snp
is	mentioned by
dbSNP	rs113994039
dbSNP (classic)	rs113994039
ClinGen	rs113994039
ebi	rs113994039
HLI	rs113994039
Exac	rs113994039
Gnomad	rs113994039
Varsome	rs113994039
LitVar	rs113994039
Map	rs113994039
PheGenI	rs113994039
Biobank	rs113994039
1000 genomes	rs113994039
hgdp	rs113994039
ensembl	rs113994039
geneview	rs113994039
scholar	rs113994039
google	rs113994039
pharmgkb	rs113994039
gwascentral	rs113994039
openSNP	rs113994039
23andMe	rs113994039
SNPshot	rs113994039
SNPdbe	rs113994039
MSV3d	rs113994039
GWAS Ctlg	rs113994039

Max Magnitude

0

ClinVar
Risk	rs113994039(T;T)
Alt	rs113994039(T;T)
Reference	Rs113994039(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.27587392G>A
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also