rs113994012

Orientation

plus

Stabilized

plus

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

Make rs113994012(G;T)

Make rs113994012(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75005867

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs113994012
dbSNP (classic)	rs113994012
ClinGen	rs113994012
ebi	rs113994012
HLI	rs113994012
Exac	rs113994012
Gnomad	rs113994012
Varsome	rs113994012
LitVar	rs113994012
Map	rs113994012
PheGenI	rs113994012
Biobank	rs113994012
1000 genomes	rs113994012
hgdp	rs113994012
ensembl	rs113994012
geneview	rs113994012
scholar	rs113994012
google	rs113994012
pharmgkb	rs113994012
gwascentral	rs113994012
openSNP	rs113994012
23andMe	rs113994012
SNPshot	rs113994012
SNPdbe	rs113994012
MSV3d	rs113994012
GWAS Ctlg	rs113994012

Max Magnitude

0

ClinVar
Risk	rs113994012(C;C) rs113994012(T;T)
Alt	rs113994012(C;C) rs113994012(T;T)
Reference	Rs113994012(G;G)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter not provided
Variation	info
Gene	EIF2B2
CLNDBN	Leukoencephalopathy with vanishing white matter not provided
Reversed	0
HGVS	NC_000014.8:g.75472570G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000190580.2, RCV000255470.1,

OMIM	603896
Desc
Variant
Related	also