rs113994082

Orientation

plus

Stabilized

plus

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

Make rs113994082(A;G)

Make rs113994082(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184142541

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994082
dbSNP (classic)	rs113994082
ClinGen	rs113994082
ebi	rs113994082
HLI	rs113994082
Exac	rs113994082
Gnomad	rs113994082
Varsome	rs113994082
LitVar	rs113994082
Map	rs113994082
PheGenI	rs113994082
Biobank	rs113994082
1000 genomes	rs113994082
hgdp	rs113994082
ensembl	rs113994082
geneview	rs113994082
scholar	rs113994082
google	rs113994082
pharmgkb	rs113994082
gwascentral	rs113994082
openSNP	rs113994082
23andMe	rs113994082
SNPshot	rs113994082
SNPdbe	rs113994082
MSV3d	rs113994082
GWAS Ctlg	rs113994082

Max Magnitude

0

ClinVar
Risk	rs113994082(G;G)
Alt	rs113994082(G;G)
Reference	Rs113994082(A;A)
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.183860329A>G
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also