rs113994081

Orientation

plus

Stabilized

plus

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

Make rs113994081(A;A)

Make rs113994081(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184142516

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994081
dbSNP (classic)	rs113994081
ClinGen	rs113994081
ebi	rs113994081
HLI	rs113994081
Exac	rs113994081
Gnomad	rs113994081
Varsome	rs113994081
LitVar	rs113994081
Map	rs113994081
PheGenI	rs113994081
Biobank	rs113994081
1000 genomes	rs113994081
hgdp	rs113994081
ensembl	rs113994081
geneview	rs113994081
scholar	rs113994081
google	rs113994081
pharmgkb	rs113994081
gwascentral	rs113994081
openSNP	rs113994081
23andMe	rs113994081
SNPshot	rs113994081
SNPdbe	rs113994081
MSV3d	rs113994081
GWAS Ctlg	rs113994081

Max Magnitude

0

ClinVar
Risk	rs113994081(A;A)
Alt	rs113994081(A;A)
Reference	Rs113994081(G;G)
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.183860304G>A
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also