rs113994054

Orientation

plus

Stabilized

plus

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

Make rs113994054(A;A)

Make rs113994054(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184137975

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994054
dbSNP (classic)	rs113994054
ClinGen	rs113994054
ebi	rs113994054
HLI	rs113994054
Exac	rs113994054
Gnomad	rs113994054
Varsome	rs113994054
LitVar	rs113994054
Map	rs113994054
PheGenI	rs113994054
Biobank	rs113994054
1000 genomes	rs113994054
hgdp	rs113994054
ensembl	rs113994054
geneview	rs113994054
scholar	rs113994054
google	rs113994054
pharmgkb	rs113994054
gwascentral	rs113994054
openSNP	rs113994054
23andMe	rs113994054
SNPshot	rs113994054
SNPdbe	rs113994054
MSV3d	rs113994054
GWAS Ctlg	rs113994054

GMAF

0.0004591

Max Magnitude

0

OMIM	603945
Desc
Variant	0005
Related	also

ClinVar
Risk	rs113994054(A;A)
Alt	rs113994054(A;A)
Reference	Rs113994054(G;G)
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.183855763G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006310.4,

[PMID 12707859] Ovarian failure related to eukaryotic initiation factor 2B mutations.