rs113994020

Orientation

plus

Stabilized

plus

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

Make rs113994020(G;T)

Make rs113994020(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75009118

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs113994020
dbSNP (classic)	rs113994020
ClinGen	rs113994020
ebi	rs113994020
HLI	rs113994020
Exac	rs113994020
Gnomad	rs113994020
Varsome	rs113994020
LitVar	rs113994020
Map	rs113994020
PheGenI	rs113994020
Biobank	rs113994020
1000 genomes	rs113994020
hgdp	rs113994020
ensembl	rs113994020
geneview	rs113994020
scholar	rs113994020
google	rs113994020
pharmgkb	rs113994020
gwascentral	rs113994020
openSNP	rs113994020
23andMe	rs113994020
SNPshot	rs113994020
SNPdbe	rs113994020
MSV3d	rs113994020
GWAS Ctlg	rs113994020

Max Magnitude

0

ClinVar
Risk	rs113994020(T;T)
Alt	rs113994020(T;T)
Reference	Rs113994020(G;G)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B2
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	0
HGVS	NC_000014.8:g.75475821G>T
CLNSRC
CLNACC

[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.