rs113994061

Orientation

plus

Stabilized

plus

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

Make rs113994061(C;C)

Make rs113994061(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184140499

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994061
dbSNP (classic)	rs113994061
ClinGen	rs113994061
ebi	rs113994061
HLI	rs113994061
Exac	rs113994061
Gnomad	rs113994061
Varsome	rs113994061
LitVar	rs113994061
Map	rs113994061
PheGenI	rs113994061
Biobank	rs113994061
1000 genomes	rs113994061
hgdp	rs113994061
ensembl	rs113994061
geneview	rs113994061
scholar	rs113994061
google	rs113994061
pharmgkb	rs113994061
gwascentral	rs113994061
openSNP	rs113994061
23andMe	rs113994061
SNPshot	rs113994061
SNPdbe	rs113994061
MSV3d	rs113994061
GWAS Ctlg	rs113994061

Max Magnitude

0

OMIM	603945
Desc
Variant	0006
Related	also

ClinVar
Risk	rs113994061(C;C)
Alt	rs113994061(C;C)
Reference	Rs113994061(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.183858287G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006311.4,

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