rs113994086

Orientation

plus

Stabilized

plus

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

Make rs113994086(-;-)

Make rs113994086(-;GTACTGATGGCTTTCTACCAG)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184144597

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994086
dbSNP (classic)	rs113994086
ClinGen	rs113994086
ebi	rs113994086
HLI	rs113994086
Exac	rs113994086
Gnomad	rs113994086
Varsome	rs113994086
LitVar	rs113994086
Map	rs113994086
PheGenI	rs113994086
Biobank	rs113994086
1000 genomes	rs113994086
hgdp	rs113994086
ensembl	rs113994086
geneview	rs113994086
scholar	rs113994086
google	rs113994086
pharmgkb	rs113994086
gwascentral	rs113994086
openSNP	rs113994086
23andMe	rs113994086
SNPshot	rs113994086
SNPdbe	rs113994086
MSV3d	rs113994086
GWAS Ctlg	rs113994086

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs113994086(GTACTGATGGCTTTCTACCAG;GTACTGATGGCTTTCTACCAG)
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.183862385_183862405del21
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also