rs113994058

Orientation

plus

Stabilized

plus

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

Make rs113994058(C;G)

Make rs113994058(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184140119

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994058
dbSNP (classic)	rs113994058
ClinGen	rs113994058
ebi	rs113994058
HLI	rs113994058
Exac	rs113994058
Gnomad	rs113994058
Varsome	rs113994058
LitVar	rs113994058
Map	rs113994058
PheGenI	rs113994058
Biobank	rs113994058
1000 genomes	rs113994058
hgdp	rs113994058
ensembl	rs113994058
geneview	rs113994058
scholar	rs113994058
google	rs113994058
pharmgkb	rs113994058
gwascentral	rs113994058
openSNP	rs113994058
23andMe	rs113994058
SNPshot	rs113994058
SNPdbe	rs113994058
MSV3d	rs113994058
GWAS Ctlg	rs113994058

Max Magnitude

0

ClinVar
Risk	rs113994058(G;G)
Alt	rs113994058(G;G)
Reference	Rs113994058(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.183857907C>G
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also