rs113994064

Orientation

plus

Stabilized

plus

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

Make rs113994064(A;A)

Make rs113994064(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184140518

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994064
dbSNP (classic)	rs113994064
ClinGen	rs113994064
ebi	rs113994064
HLI	rs113994064
Exac	rs113994064
Gnomad	rs113994064
Varsome	rs113994064
LitVar	rs113994064
Map	rs113994064
PheGenI	rs113994064
Biobank	rs113994064
1000 genomes	rs113994064
hgdp	rs113994064
ensembl	rs113994064
geneview	rs113994064
scholar	rs113994064
google	rs113994064
pharmgkb	rs113994064
gwascentral	rs113994064
openSNP	rs113994064
23andMe	rs113994064
SNPshot	rs113994064
SNPdbe	rs113994064
MSV3d	rs113994064
GWAS Ctlg	rs113994064

Max Magnitude

0

OMIM	603945
Desc
Variant	0009
Related	also

ClinVar
Risk	rs113994064(A;A)
Alt	rs113994064(A;A)
Reference	Rs113994064(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.183858306G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006314.3,

[PMID 17646634] Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.