rs113994042

Orientation

plus

Stabilized

plus

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

Make rs113994042(C;C)

Make rs113994042(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184135546

Gene	EIF2B5, LOC105374249

is a	snp
is	mentioned by
dbSNP	rs113994042
dbSNP (classic)	rs113994042
ClinGen	rs113994042
ebi	rs113994042
HLI	rs113994042
Exac	rs113994042
Gnomad	rs113994042
Varsome	rs113994042
LitVar	rs113994042
Map	rs113994042
PheGenI	rs113994042
Biobank	rs113994042
1000 genomes	rs113994042
hgdp	rs113994042
ensembl	rs113994042
geneview	rs113994042
scholar	rs113994042
google	rs113994042
pharmgkb	rs113994042
gwascentral	rs113994042
openSNP	rs113994042
23andMe	rs113994042
SNPshot	rs113994042
SNPdbe	rs113994042
MSV3d	rs113994042
GWAS Ctlg	rs113994042

Max Magnitude

0

ClinVar
Risk	rs113994042(C;C)
Alt	rs113994042(C;C)
Reference	Rs113994042(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.183853334G>C
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also