rs113994016

Orientation

plus

Stabilized

plus

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

Make rs113994016(A;G)

Make rs113994016(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75006701

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs113994016
dbSNP (classic)	rs113994016
ClinGen	rs113994016
ebi	rs113994016
HLI	rs113994016
Exac	rs113994016
Gnomad	rs113994016
Varsome	rs113994016
LitVar	rs113994016
Map	rs113994016
PheGenI	rs113994016
Biobank	rs113994016
1000 genomes	rs113994016
hgdp	rs113994016
ensembl	rs113994016
geneview	rs113994016
scholar	rs113994016
google	rs113994016
pharmgkb	rs113994016
gwascentral	rs113994016
openSNP	rs113994016
23andMe	rs113994016
SNPshot	rs113994016
SNPdbe	rs113994016
MSV3d	rs113994016
GWAS Ctlg	rs113994016

Max Magnitude

0

ClinVar
Risk	rs113994016(G;G)
Alt	rs113994016(G;G)
Reference	Rs113994016(A;A)
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.75473404A>G
CLNSRC
CLNACC

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