rs113994083

Orientation

plus

Stabilized

plus

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

Make rs113994083(-;-)

Make rs113994083(-;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184143509

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994083
dbSNP (classic)	rs113994083
ClinGen	rs113994083
ebi	rs113994083
HLI	rs113994083
Exac	rs113994083
Gnomad	rs113994083
Varsome	rs113994083
LitVar	rs113994083
Map	rs113994083
PheGenI	rs113994083
Biobank	rs113994083
1000 genomes	rs113994083
hgdp	rs113994083
ensembl	rs113994083
geneview	rs113994083
scholar	rs113994083
google	rs113994083
pharmgkb	rs113994083
gwascentral	rs113994083
openSNP	rs113994083
23andMe	rs113994083
SNPshot	rs113994083
SNPdbe	rs113994083
MSV3d	rs113994083
GWAS Ctlg	rs113994083

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs113994083(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.183861297delC
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also