rs113994084

Orientation

plus

Stabilized

plus

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

Make rs113994084(A;A)

Make rs113994084(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184144113

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994084
dbSNP (classic)	rs113994084
ClinGen	rs113994084
ebi	rs113994084
HLI	rs113994084
Exac	rs113994084
Gnomad	rs113994084
Varsome	rs113994084
LitVar	rs113994084
Map	rs113994084
PheGenI	rs113994084
Biobank	rs113994084
1000 genomes	rs113994084
hgdp	rs113994084
ensembl	rs113994084
geneview	rs113994084
scholar	rs113994084
google	rs113994084
pharmgkb	rs113994084
gwascentral	rs113994084
openSNP	rs113994084
23andMe	rs113994084
SNPshot	rs113994084
SNPdbe	rs113994084
MSV3d	rs113994084
GWAS Ctlg	rs113994084

Max Magnitude

0

ClinVar
Risk	rs113994084(A;A)
Alt	rs113994084(A;A)
Reference	Rs113994084(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.183861901G>A
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also